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Is thyreoidectomy necessary in RET mutations carries of the familial medullary thyroid carcinoma syndrome?
2000-01-01
Familial Non-Medullary Thyroid Carcinoma: An Update
2008-01-01
Familial thyroid cancer can arise from follicular cells (familial non-medullary thyroid carcinoma (FNMTC)) or from the calcitonin-producing C-cell (familial medullary thyroid carcinoma). This is usually a component of multiple endocrine neoplasias (MEN) IIA or IIB, or as pure familial medullary thyroid carcinoma syndrome. The genetic events in the familial C-cell-derived tumors are known and genotype–phenotype correlations are well established. In contrast, the case for a familial predisposition of non-medullary thyroid carcinoma is only now beginning to emerge. Although the majority of papillary (PTC) and follicular thyroid carcinomas (FTC) are sporadic, familial tumors account for over 5% of cases. The presence of multifocal papillary carcinoma is a common feature of FNMTC. The familia...
Clinical Evaluation of 18F-DOPA Positron Emission Tomography in Medullary Thyroid Cancer
Thyroid Neoplasm; Thyroid Carcinoma; Medullary Carcinoma
Hypercalcitoninemia is not Pathognomonic of Medullary Thyroid Carcinoma
2009-07-01
Full Text Available.Hypercalcitoninemia has frequently been reported as a marker for medullary thyroid carcinoma. Currently, calcitonin measurements are mostly useful in the evaluation of tumor size and progression, and as an index of biochemical improvement of medullary thyroid carcinomas. Although measurement of calcitonin is a highly sensitive method for the detection of medullary thyroid carcinoma, it presents a low specificity for this tumor. Several physiologic and pathologic conditions other than medullary thyroid carcinoma have been associated with increased levels of calcitonin. Several cases of thyroid nodules associated with increased values of calcitonin are not medullary thyroid carcinomas, but rather are related to other conditions, such as hypercalcemias, hypergastrinemias, neuroendocrine tumors, renal insufficiency, papillary and follicular thyroid carcinomas, and goiter. Furthermore, prolonged treatment with omeprazole (> 2–4 months), beta-blockers, glucocorticoids and potential secretagogues, have been associated with hypercalcitoninemia. An association between calcitonin levels and chronic auto-immune thyroiditis remains controversial. Patients with calcitonin levels >100 pg/mL have a high risk for medullary thyroid carcinoma (~90%–100%), whereas patients with values from 10 to 100 pg/mL (normal values: <8.5 pg/mL for men, < 5.0 pg/mL for women; immunochemiluminometric assay) have a <25% risk for medullary thyroid carcinoma.In multiple endocrine neoplasia type 2 (MEN2), RET mutation analysis is the gold-standard for the recommendation of total preventive thyroidectomy to relatives at risk of harboring a germline RET mutation (50%). False-positive calcitonin results within MEN2 families have led to incorrect indications of preventive total thyroidectomy to RET mutation negative relatives. In this review, we focus on the differential diagnosis of hypercalcitoninemia, underlining its importance for the avoidance of misdiagnosis of medullary thyroid carcinoma and consequent incorrect recommendation for thyroid surgery.
Hypercalcitoninemia is not pathognomonic of medullary thyroid carcinoma
2009-01-01
Full Text Available
Medullary thyroid carcinoma: localization of a mediastinal metastasis with I-131 MIBG
An I-131 metaiodobenzylguanidine (MIBG) scan was performed in a patient with a familial history of multiple endocrine neoplasia (MEN) type 2 and recurrent medullary thyroid carcinoma (MTC). The scan revealed a mediastinal metastasis from her MTC and there was also an imaging pattern of bilateral adreno-medullary hyperplasia. Although the literature indicates that I-131-MIBG scanning is not sufficiently sensitive for the detection of MTC, this procedure has proven to be of value in the management of chosen patients with MEN-associated MTC.
Medullary thyroid carcinoma: localization of a mediastinal metastasis with I-131 MIBG
1988-01-01
An I-131 metaiodobenzylguanidine (MIBG) scan was performed in a patient with a familial history of multiple endocrine neoplasia (MEN) type 2 and recurrent medullary thyroid carcinoma (MTC). The scan revealed a mediastinal metastasis from her MTC and there was also an imaging pattern of bilateral adreno-medullary hyperplasia. Although the literature indicates that I-131-MIBG scanning is not sufficiently sensitive for the detection of MTC, this procedure has proven to be of value in the management of chosen patients with MEN-associated MTC
Medullary thyroid carcinoma: localization of a mediastinal metastasis with I-131 MIBG
1988-08-01
An I-131 metaiodobenzylguanidine (MIBG) scan was performed in a patient with a familial history of multiple endocrine neoplasia (MEN) type 2 and recurrent medullary thyroid carcinoma (MTC). The scan revealed a mediastinal metastasis from her MTC and there was also an imaging pattern of bilateral adreno-medullary hyperplasia. Although the literature indicates that I-131-MIBG scanning is not sufficiently sensitive for the detection of MTC, this procedure has proven to be of value in the management of chosen patients with MEN-associated MTC.
Imatinib in Combination With Dacarbazine and Capecitabine in Medullary Thyroid Carcinoma
Solid Tumor; Thyroid Cancer
Uptake of I-131 MIBG by medullary thyroid cancer
I-131 MIBG scans are useful for the localization of pheochromocytoma and neuroblastoma with high catecholamine levels. Recently the authors have found that medullary thyroid cancer also showed an uptake of I-131 MIBG in both primary neck tumors and metastatic sites. Up to now scintigraphic studies were performed in 5 patients with medullary thyroid cancer. Scintigraphy was done at 24 and 48 hours after the administration of 0.5 mCi of I-131 MIBG, thyroid uptake of dissociated I-131 being prevented by Lugol's solution. Four out of 5 cases were familial type and uptake of I-131 MIBG was similarly observed in medullary thyroid cancer as well as in pheochromocytoma. Bone metastasis of medullary thyroid cancer was also detected with I-131 MIBG. However, one case of sporadic form was negative with I-131 MIBG, whereas there was a high uptake of Tc(V)-99m dimercaptosuccinic acid: a newly developed radiopharmaceutical for medullary thyroid cancer, visualizing a different uptake mechanism of both reagents (J Nucl Med 25: 323-325, 1984). After adrenalectomy high uptake of I-131 MIBG was still observed in medullary thyroid cancer, in spite of normal catecholamine levels. The tumor to blood ratio was estimated in vivo to be about several hundreds at 24 hours after the administration. These cells are of neural crest origin and the mechanism of uptake of I-131 MIBG may not be related to the catechamine uptake mechanism. This paper concludes that I-131 MIBG is useful not only for the localization but also for the treatment of medullary thyroid cancer, as preliminary performed in pheochromocytoma and neuroblastoma.
Uptake of I-131 MIBG by medullary thyroid cancer
1985-05-01
I-131 MIBG scans are useful for the localization of pheochromocytoma and neuroblastoma with high catecholamine levels. Recently the authors have found that medullary thyroid cancer also showed an uptake of I-131 MIBG in both primary neck tumors and metastatic sites. Up to now scintigraphic studies were performed in 5 patients with medullary thyroid cancer. Scintigraphy was done at 24 and 48 hours after the administration of 0.5 mCi of I-131 MIBG, thyroid uptake of dissociated I-131 being prevented by Lugol's solution. Four out of 5 cases were familial type and uptake of I-131 MIBG was similarly observed in medullary thyroid cancer as well as in pheochromocytoma. Bone metastasis of medullary thyroid cancer was also detected with I-131 MIBG. However, one case of sporadic form was negative with I-131 MIBG, whereas there was a high uptake of Tc(V)-99m dimercaptosuccinic acid: a newly developed radiopharmaceutical for medullary thyroid cancer, visualizing a different uptake mechanism of both reagents (J Nucl Med 25: 323-325, 1984). After adrenalectomy high uptake of I-131 MIBG was still observed in medullary thyroid cancer, in spite of normal catecholamine levels. The tumor to blood ratio was estimated in vivo to be about several hundreds at 24 hours after the administration. These cells are of neural crest origin and the mechanism of uptake of I-131 MIBG may not be related to the catechamine uptake mechanism. This paper concludes that I-131 MIBG is useful not only for the localization but also for the treatment of medullary thyroid cancer, as preliminary performed in pheochromocytoma and neuroblastoma.
First comprehensive guidelines for managing medullary thyroid carcinoma published in ...
New guidelines designed to standardize and optimize the diagnosis, treatment and monitoring of patients with medullary thyroid carcinoma, an uncommon and challenging form of thyroid cancer, have been developed by the ...
Central neck dissection in the management of sporadic medullary thyroid microcarcinoma
2005-01-01
AimTreatment of medullary thyroid carcinoma (MTC) includes total thyroidectomy with at least bilateral central neck dissection. Systematic measurement of thyrocalcitonin (CT) levels in thyroid nodules allows for early diagnosis of MTC. As central neck dissection (CND) is associated with high morbidity, the aim of this study was to investigate the necessity of this procedure in the treatment of sporadic medullary thyroid microcarcinoma (S-mMTC).MethodsProspective multicentric study including 43 patients with sporadic micro-MTC who underwent CND between January 1991 and August 2001.Results26 women and 17 men with sporadic micro-MTC, aged 28-87 (mean age was 58 years), without family history of multiple endocrine neoplasia, underwent surgery. Total thyroidectomy was performed in all patients ...
2010-01-01
Phase II Trial of Sorafenib (Nexavar) in Patients With Advanced Thyroid Cancer
Metastatic Differentiated Thyroid Cancer; Metastatic Poorly Differentiated Thyroid Cancer; Metastatic Anaplastic Thyroid Cancer; Metastatic Medullary Thyroid Cancer
Familial Medullary Thyroid Carcinoma Associated with Cutaneous Lichen Amyloidosis
2009-01-01
Background: This is a report of a patient with a novel genotypeâphenotype relationship of a c804 mutation of the RET proto-oncogene manifesting as medullary thyroid carcinoma (MTC) and cutaneous lichen amyloidosis (CLA). Summary: Clinical data were obtained for patient appearance and laboratory results. Analyzed were histopathology of the skin lesion and thyroid gland, genetic mutation, and family pedigree. Skin histology and histochemistry were consistent with CLA. Serum calcitonin levels were moderately elevated. Thyroid histology demonstrated a 4âmm focus of MTC. Measurements of serum parathormone, calcium, and plasma metanephrines were normal. DNA analysis demonstrated a mutation in codon 804 of the RET proto-oncogene resulting in a Valine to Methionine (V804M) substitution. Geneti...
Familial medullary carcinoma prevention, risk evaluation, and RET in children of families with MEN2
2007-01-01
The ability to predict the risk of MEN2 and medullary thyroid carcinoma (MTC) by genetic RET proto-oncogene analysis has provided an essential tool in identifying patients in whom thyroid cancer can be prevented by prophylactic thyroidectomy but emphasizes the need for clear policy guidelines. Children of families with RET cysteine mutations (exons 10, 11, 13, and 16) may develop early metastatic tumours and require prophylactic thyroidectomy. The 918 mutation associated with MEN2B is associated with early aggressive behaviour and distant metastatic spread. This has led to active screening of affected families underlining the need for specific intervention strategies.AimTo evaluate the risk to children of families with MEN2 and to assess the risk and determine the treatment.MethodsTwenty-f...
Nuclear medicine procedures in the diagnosis and therapy of medullary thyroid carcinoma
2008-01-01
Medullary thyroid carcinoma (MTC) is a rare neuroendocrine tumor originating in the parafollicular cells (C cells) of the thyroid and secretes both calcitonin and carcino-embryonic antigen (CEA). Genetic and biochemical testing allow early pre-clinical identification of familial forms. Sporadic MTC usually presents as a solitary thyroid nodule; the diagnosis can be made preoperatively by fine-needle aspiration or by calcitonin assay, though it is usually established at the time of surgery. In the diagnostic assessment of MTC, nuclear medicine imaging provides its contribution mainly in the post-operative work-up to detect residual/recurrent tumor. For such purpose a number of radiopharmaceuticals, which take advantage of the specific expression of receptors (the somatostatin analogue 111In...
2006-01-01
Familial Non-Medullary Thyroid Carcinoma (fNMTC) represents 3–7% of all thyroid tumours and is associated with some of the highest familial risks among all cancers, with an inheritance pattern compatible with an autosomal dominant model with reduced penetrance. We previously mapped a predisposing locus, TCO (Thyroid tumour with Cell Oxyphilia) on chromosome 19p13.2, for a particular form of thyroid tumour characterised by cells with an abnormal proliferation of mitochondria (oxyphilic or oncocytic cells). In the present work, we report the systematic screening of 14 candidate genes mapping to the region of linkage in affected TCO members, that led us to identify two novel variants respectively in exon 9 and exon 13 of TIMM44, a mitochondrial inner membrane translocase for the import ...
2000-08-01
The screening for sporadic medullary thyroid carcinoma relies upon calcitoninemia level, basal or during pentagastrine stimulation test. MEN2 are associated with nearly the third of medullary thyroid carcinoma. In these cases, prognosis of thyroid carcinoma is mainly driven by the tumor status at the time of surgery. Up to date, diagnosis relies upon the genetic screening. Prophylactic thyroidectomy indication may take account of calcitoninemia. Most of the molecules that have been suggested for scintiscan lack of accuracy and large use cannot be recommended. Promising results have been obtained with monoclonal antibodies anti-CEA, particularly with dual targeting antiCEA antiDTPA. This last technique may also be used for radio-guided surgery. Its use for radio-immunotherapy is under investigation. (authors)
Multiple endocrine neoplasia type 2
2009-01-01
Multiple endocrine neoplasia type 2 (MEN 2) is an autosomal dominantly inherited tumor syndrome subclassified into three distinct syndromes: MEN 2A, MEN 2B and familial medullary thyroid carcinoma. In MEN 2 families, medullary thyroid carcinoma, pheochromocytomas and parathyroid adenomas occur with a variable frequency, also depending on the specific genetic defect involved. In 1993, the responsible MEN2 gene was identified. The genetic defect in these disorders involves the RET proto-oncogene on chromosome 10. The germline RET mutations result in a gain-of-function of the RET protein. Extensive studies on large families revealed that there is a strong genotype-phenotype correlation. In this review, guidelines for early diagnosis, including MEN2 gene mutation analysis, and treatment, inclu...
Vandetanib in Treating Young Patients With Medullary Thyroid Cancer
Head and Neck Cancer; Multiple Endocrine Neoplasia
Tc-99m Sestamibi scintigraphy in recurrent medullary thyroid carcinoma
1996-10-01
Short communication.
Tc-99m Sestamibi scintigraphy in recurrent medullary thyroid carcinoma
1996-01-01
Short communication
Sporadic medullary thyroid carcinoma: clinical data from a university hospital
2009-05-01
Full Text Available
Head and Neck Cancer; Multiple Endocrine Neoplasia
Detection of small metastatic lymph nodes PET/CT in a patient with medullary thyroid carcinoma
2004-02-01
No abstract prepared.
Detection of small metastatic lymph nodes PET/CT in a patient with medullary thyroid carcinoma
2004-01-01
(No abstract available)
Medullary thyroid carcinoma. Carcinomes medullaires de la thyroide
1993-01-01
Medullary thyroid cancer (MTC) produces calcitonin which acts as a very efficient tumor marker preoperatively as well as after surgery. Application of the IRMA method to calcitonin assay led to an improvement in analytical specificity but a reevaluation of the normal ranges for basal levels and pentagatrin stimulated levels is necessary, taking into account an enhanced production of calcitonin in some benign or malignant conditions. Other tumor markers that can or could be useful in this cancer are reviewed. The modalities of screening for propositus and families are addressed. I Schuffenecker shows how genetics can improve this screening. The remarkable sensitivity of the humoral detection of MTC tissue challenges imaging since it is often difficult to localize the recurrence or the metastasis. Scintigraphy plays a role in this indication. Present methods appeared to be ... >>
Medullary thyroid cancer: RET testing of an archival material
2010-01-01
Medullary thyroid carcinoma (MTC) might be sporadic (75%) or hereditary (25%). Until the mid nineties the diagnosis of hereditary MTC was based on family history, clinical evaluation, histological detection of C-cell hyperplasia and tumor multifocality. Patients and families with hereditary MTC might be missed? Today mutation analysis of the RET proto-oncogene is routinely performed on DNA. Departments of pathology often store tissue specimens from performed surgical procedures. The purpose of this study was to examine if analysis of DNA extracted from formalin fixed archival tissue might be a possible method to identify not previously known cases of hereditary MTC. In 23 cases, tissue analysis was performed, and in 2 patients (9%) a mutation was identified, but in both cases the most like...
Long-term outcome of "prophylactic therapy" for familial medullary thyroid cancer
2009-01-01
Background About one quarter of all medullary thyroid cancers (MTC) are determined genetically due to a mutation in the RET proto-oncogene. The most common site of mutation is in codon 634. Therapeutic approaches toward patients at risk for the development of MTC identified by family screening programs range from total thyroidectomy to total thyroidectomy with lymphadenectomy of all 4 compartments. Methods We report 17 patients (median age, 13 years; range, 4-36) carrying a mutation in codon 634 of the RET proto-oncogene who were operated on prophylactically at our department. All patients underwent thyroidectomy with bilateral cervicocentral lymphadenectomy. Current calcitonin level, overall survival, and disease-free survival were analyzed by contacting general practitioners and patients...
Carcinoembryonic antigen in thyroid cancer
In order to investigate the usefulness of determining the serum concentrations of carcinoembryonic antigen (CEA) as a specific tumor marker in thyroid cancer, CEA serum levels were measured (enzymeimmunoassay, Abbott-Kit) repeatedly at the routine followup checks performed at various intervals after total thyroidectomy, in 65 patients with papillary, 82 with follicular, 25 with mixed type (papillary/follicular), 8 with anaplastic, and in 18 patients with medullary thyroid cancer. The postoperative observation period of these patients ranged from 2 to 36 months. Calcitonin serum levels were additionally determined in patients with medullary carcinoma (radioimmunoassay kit of Immuno-Nuclear Corp.). In the family of one patient with medullary carcinoma we also had an opportunity to investigate, within the framework of family screening (pentagastrin tests, etc.), the value of preoperative CEA determination. In the patients with ''non-medullary'' histological types of thyroid cancer, the maximum CEA serum concentration was 9.8 ng/ml. 6% of the patients with papillary, 9% of the patients with follicular, and 8% of those with mixed type thyroid cancer had serum levels above the upper limit of our normal range (5 ng/ml). All patients with anaplastic carcinoma had values below 3 ng/ml. The values quoted represent maximal values and were confirmed at various follow-up checks. However, 1 year after thyroidectomy, a female patient with follicular thyroid carcinoma developed an adenocarcinoma of the rectum: The CEA levels measured in this patient were: 4.2 ng/ml 3 weeks after thyroidectomy, 8.4 ng/ml 6 months later, and 37 ng/ml 1 week before operation on the rectum. In none of the other patients with elevated CEA levels were metastases of thyroid cancer, or any other malignancy, detected.
Carcinoembryonic antigen in thyroid cancer
1982-12-01
In order to investigate the usefulness of determining the serum concentrations of carcinoembryonic antigen (CEA) as a specific tumor marker in thyroid cancer, CEA serum levels were measured (enzymeimmunoassay, Abbott-Kit) repeatedly at the routine followup checks performed at various intervals after total thyroidectomy, in 65 patients with papillary, 82 with follicular, 25 with mixed type (papillary/follicular), 8 with anaplastic, and in 18 patients with medullary thyroid cancer. The postoperative observation period of these patients ranged from 2 to 36 months. Calcitonin serum levels were additionally determined in patients with medullary carcinoma (radioimmunoassay kit of Immuno-Nuclear Corp.). In the family of one patient with medullary carcinoma we also had an opportunity to investigate, within the framework of family screening (pentagastrin tests, etc.), the value of preoperative CEA determination. In the patients with ''non-medullary'' histological types of thyroid cancer, the maximum CEA serum concentration was 9.8 ng/ml. 6% of the patients with papillary, 9% of the patients with follicular, and 8% of those with mixed type thyroid cancer had serum levels above the upper limit of our normal range (5 ng/ml). All patients with anaplastic carcinoma had values below 3 ng/ml. The values quoted represent maximal values and were confirmed at various follow-up checks. However, 1 year after thyroidectomy, a female patient with follicular thyroid carcinoma developed an adenocarcinoma of the rectum: The CEA levels measured in this patient were: 4.2 ng/ml 3 weeks after thyroidectomy, 8.4 ng/ml 6 months later, and 37 ng/ml 1 week before operation on the rectum. In none of the other patients with elevated CEA levels were metastases of thyroid cancer, or any other malignancy, detected.
Treatment of medullary carcinoma of the thyroid with I-131
We present a patient with radioiodine concentration in pulmonary metastases presumably arising from medullary carcinoma of the thyroid. Transient symptomatic improvement occurred after treatment with a large dose of sodium iodide (I-131). Although radioiodine concentration in medullary carcinoma of the thyroid is rare, the findings in this patient and in other recent reports suggest that an attempt should be made to determine whether a medullary carcinoma concentrates radioiodine. If so, I-131 treatment might be beneficial.
Treatment of medullary carcinoma of the thyroid with I-131
We present a patient with radioiodine concentration in pulmonary metastases presumably arising from medullary carcinoma of the thyroid. Transient symptomatic improvement occurred after treatment with a large dose of sodium iodide (I-131). Although radioiodine concentration in medullary carcinoma of the thyroid is rare, the findings in this patient and in other recent reports suggest that an attempt should be made to determine whether a medullary carcinoma concentrates radioiodine. If so, I-131 treatment might be beneficial.
Treatment of medullary carcinoma of the thyroid with I-131
1982-02-01
We present a patient with radioiodine concentration in pulmonary metastases presumably arising from medullary carcinoma of the thyroid. Transient symptomatic improvement occurred after treatment with a large dose of sodium iodide (I-131). Although radioiodine concentration in medullary carcinoma of the thyroid is rare, the findings in this patient and in other recent reports suggest that an attempt should be made to determine whether a medullary carcinoma concentrates radioiodine. If so, I-131 treatment might be beneficial.
Treatment of medullary carcinoma of the thyroid with I-131
1982-02-01
We present a patient with radioiodine concentration in pulmonary metastases presumably arising from medullary carcinoma of the thyroid. Transient symptomatic improvement occurred after treatment with a large dose of sodium iodide (I-131). Although radioiodine concentration in medullary carcinoma of the thyroid is rare, the findings in this patient and in other recent reports suggest that an attempt should be made to determine whether a medullary carcinoma concentrates radioiodine. If so, I-131 treatment might be beneficial.
New imaging agent for medullary carcinoma of the thyroid
Thyroid scintigraphy, using /sup 99m/Tc(V) dimercaptosuccinic acid, was performed in four patients with pathologically confirmed medullary thyroid carcinoma and elevated serum calcitonin values. Significant uptake of the tracer was found in the clinically palpable cervical tumor masses, metastatic sites, and residual tumor. This finding, probably specific for medullary thyroid carcinoma, could be of great use in the diagnosis and the surgical follow-up.
New imaging agent for medullary carcinoma of the thyroid
1984-03-01
Thyroid scintigraphy, using /sup 99m/Tc(V) dimercaptosuccinic acid, was performed in four patients with pathologically confirmed medullary thyroid carcinoma and elevated serum calcitonin values. Significant uptake of the tracer was found in the clinically palpable cervical tumor masses, metastatic sites, and residual tumor. This finding, probably specific for medullary thyroid carcinoma, could be of great use in the diagnosis and the surgical follow-up.
Micronodular radiographic pulmonary pattern in metastatic medullary thyroid carcinoma.
2007-05-01
Full Text Available.Medullary carcinoma of the thyroid is a rare form of all thyroid malignancies, thereby limiting the clinical nature and the ability to optimize diagnostic tools. We present two cases of a micronodular radiographic pulmonary pattern in metastatic medullary thyroid cancer to enhance awareness of the disease process. We reviewed the literature to examine the ideal methods to establish a diagnosis.ImagesFigure 1Figure 2
2005-01-01
Hereditary medullary thyroid carcinoma (MTC) is caused by autosomal dominant gain-of-function mutations in the RET proto-oncogene. Associations between specific RET mutations (genotype) and the aggressiveness of MTC and presence or absence of other endocrine neoplasms (phenotype) are well documented. Mutations in six exons (10, 11, 13, 14, 15, and 16) located in either cysteine-rich or tyrosine kinase domains cause one of three distinctive clinical subtypes: familial MTC, multiple endocrine neoplasia (MEN) type 2A (including variants with Hirschsprung's disease and cutaneous lichen amyloidosis), and MEN 2B. Hallmarks of MEN 2A include MTC, pheochromocytoma, and hyperparathyroidism. MEN 2B is associated with an earlier onset of MTC and pheochromocytoma, the absence of hyperparathyroidism, a...
Molecular advances in medullary thyroid cancer diagnostics
2006-01-01
Germline activating mutations in the RET proto-oncogene cause inherited medullary thyroid cancer (MTC) and the multiple endocrine neoplasia type 2 (MEN2) syndrome. Identification of a RET mutation in an individual with MEN2 allows pre-symptomatic genetic testing of other at-risk family members, and guides early intervention to prevent death and serious morbidity from MTC. Developments in the understanding of downstream RET receptor signalling pathways and how activating mutations disturb receptor function has led to insights into the possible molecular mechanisms underlying the different MEN2 phenotypes. Mutation analysis of RET in individuals with MEN2 has identified a number of different mutations, and correlation with cancer biology and clinical outcome has led to tailoring of managemen...
ES16GENOTYPE PHENOTYPE CORRELATION IN AN AUSTRALASIAN MEDULLARY THYROID CANCER
2009-01-01
Purpose: The aim of this study is to review the genotype- phenotype correlation in patients with medullary thyroid cancer in an Australian cohort. Methodology: Patients were identified from a prospectively maintained surgical database. Clinical features of tumour size, pre-operative calcitonin, rate of lymph node metastases, disease free survival, tumour recurrence, RET mutations, were statistically assessed using the Stata software package. Results: Eighty patients were identified between 1967 and 2006. Fifty-three had sporadic MTC (sMTC) and 27 had familial MTC (fMTC). Significant difference p
1995-01-01
Adrenal medullary disease (AMD) is clinically silent in most patients with medullary thyroid carcinoma (MTC). During 16 years, a series of 174 MTC patients was screened yearly for AMD. Metaiodobenzylguanidine (MIBG) scans were performed in 54 cases (21 at diagnosis and 33 during the follow up of MTC) either systematically (43 cases) or in patients with biological or ultrasonographic signs of AMD (11 cases). AMD was discovered in ten patients: five patients were already known to have a type II multiple endocrine neoplasia (MEN-2). In five patients previously considered as having either a sporadic (four cases) or a familial type of isolated MTC (one case), the occurrence of AMD led to diagnose a MEN-2 a syndrome. In three cases, AMD was bilateral. MIBG scan were performed in nine of the ten patients with AMD. No false positive MIBG scan was observed in the series. All patients with ... >>
A Korean Family of Familial Medullary Thyroid Cancer with Cys618Ser RET Germline Mutation
2010-02-01
Full Text Available.Familial medullary thyroid carcinoma (FMTC) is caused by autosomal dominant gain-of-function mutations in the RET proto-oncogene. An identifiable RET mutation can be detected in about 85% of FMTC families. The majority of germline mutations in FMTC have been found in exons 10 and 11 of the RET proto-oncogene, specifically within the cysteine codons 609, 611, 618, 620, and 634. We screened members of a large Korean family that had a history of FMTC by genetic analyses, and propose a therapeutic approach for managing the disorder. We report a RET mutation in exon10, codon 618 that causes substitution of a cysteine by a serine in the cysteine-rich domain of the RET receptor in a three-generation FMTC family composed of 30 members with 11 carriers. Nine of the gene carriers were clinically affected. The FMTC with cysteine RET mutations found in the Korean population is consistent with the clinical pattern reported worldwide; to date there have been no ethnic differences identified for FMTC. Our results suggest that this genetic profile might be associated with usually aggressive clinical course with regional lymph node metastasis but late onset of MTC.
2006-01-01
RET (rearranged during transfection) is a transmembrane tyrosine kinase and acts as co-receptor of glial-derived neurotrophic factor (GDNF) family neurothrofic factors in complex with GFRa family proteins; RET is important for development of enteric nervous system and renal organogenesis during embryonal life. Alterations in Ret gene are related to several neoplasias: point mutations are identified in medullary thyroid carcinoma (MTC) and multiple endocrine neoplasias 2A and B (MEN2A and B), while translocations and chromosomal inversions cause papillary thyroid carcinoma (PTC).We expressed recombinant RET kinase domain (rRET) containing the active site, the ATP binding pocket, and the activation loop with regulatory activity, with the Baculovirus expression system. RET was purified by a t...
1983-06-01
A case of accumulation of the bone imaging agent, technetium-99m MDP, in the liver of a patient with metastases from a primary medullary carcinoma of the thyroid is presented. The possible roles of amyloid and dystrophic calcification in the mechanism of uptake are discussed.
Embolization of medullary carcinoma of the thyroid invading the trachea. Report of a case
A case is presented of medullary thyroid carcinoma causing severe hemoptysis by invading the trachea. After embolization with polyvinyl alcohol there was marked diminution of tumor vascularity. The embolized portions were significantly revascularized two months later, however. (orig.).
2007-01-01
We report functionally successful hepatic and left adrenal embolization with particles to treat Cushing's syndrome associated with a medullary thyroid carcinoma
We report functionally successful hepatic and left adrenal embolization with particles to treat Cushing's syndrome associated with a medullary thyroid carcinoma.
C-cell hyperplasia accompanying thyroid diseases other than medullary carcinoma: an immunocytochemical study by means of antibodies to calcitonin and somatostatin
1991-01-01
68Ga-somatostatin analogues PET and 18F-DOPA PET in medullary thyroid carcinoma
2010-01-01
(No abstract available)
2008-01-01
Medullary thyroid carcinoma (MTC) arises from parafollicular C-cells of the thyroid and accounts for 1% to 10% of all thyroid cancers (1). MTC can be sporadic or hereditary. Hereditary MTC represents 20% to 30% of all MTC with an autosomal dominant pattern of transmission and a high degree of penetrance (>90%). It can be transmitted as a single entity (sporadic), familial MTC (FMTC), or it can arise as part of a multiple endocrine neoplasia (MEN) syndrome type 2A or 2B. Both genders are equally affected. (1, 9) The identification of hereditary MTC has been facilitated in recent years by the direct analysis of germline point mutations of the RET(rearranged during transfection)-protooncogene, a 21 exon gene that encodes a plasma membrane-bound tyrosine kinase receptor, localised on chromosome 10q11.2, which is expressed in tissues derived from the neural crest. To date codon ... >>
Thyroid cancer: a lethal endocrine neoplasm
This conference focuses on the controversies about managing thyroid cancer, emphasizing the possibility that the treatment of patients with potentially fatal thyroid cancer may be improved. Although the mortality rate from thyroid cancer is low, it is the highest among cancers affecting the endocrine glands (excluding the ovary). Exposure to radiation during childhood in the 1930s and 1940s increased the incidence of but not the mortality from thyroid cancer, because these tumors are mainly papillary cancers developing in young adults. These rates may change as the exposed cohort ages. Risk factors that increase mortality include older patient age and the growth characteristics of the tumor at diagnosis, the presence of distant metastases, and cell type (for example, the tall-cell variants of papillary cancer, follicular cancer (to be distinguished from the more benign follicular variant of papillary cancer), medullary cancer, and anaplastic cancer). Local metastases in lymph nodes do not seem to increase the risk for death from papillary cancer, but they do increase the risk for death from follicular and medullary cancer. In the latter, mortality is decreased by the early detection and treatment of patients with the familial multiple endocrine neoplasia syndrome 2a. There are excellent tumor markers for differentiated cancer of the parafollicular and of the follicular cells. Measuring the calcitonin level allows early diagnosis of familial medullary cancer, whereas measuring the thyroglobulin level, although useful only after total thyroidectomy, allows early recognition of recurrence or metastases of papillary or follicular cancer. Initial surgery, protocols for follow-up, and the use of radioiodine for the ablation of any residual thyroid and the treatment of metastatic cancer are discussed.128 references.
Thyroid cancer: a lethal endocrine neoplasm
1991-07-15
This conference focuses on the controversies about managing thyroid cancer, emphasizing the possibility that the treatment of patients with potentially fatal thyroid cancer may be improved. Although the mortality rate from thyroid cancer is low, it is the highest among cancers affecting the endocrine glands (excluding the ovary). Exposure to radiation during childhood in the 1930s and 1940s increased the incidence of but not the mortality from thyroid cancer, because these tumors are mainly papillary cancers developing in young adults. These rates may change as the exposed cohort ages. Risk factors that increase mortality include older patient age and the growth characteristics of the tumor at diagnosis, the presence of distant metastases, and cell type (for example, the tall-cell variants of papillary cancer, follicular cancer (to be distinguished from the more benign follicular variant of papillary cancer), medullary cancer, and anaplastic cancer). Local metastases in lymph nodes do not seem to increase the risk for death from papillary cancer, but they do increase the risk for death from follicular and medullary cancer. In the latter, mortality is decreased by the early detection and treatment of patients with the familial multiple endocrine neoplasia syndrome 2a. There are excellent tumor markers for differentiated cancer of the parafollicular and of the follicular cells. Measuring the calcitonin level allows early diagnosis of familial medullary cancer, whereas measuring the thyroglobulin level, although useful only after total thyroidectomy, allows early recognition of recurrence or metastases of papillary or follicular cancer. Initial surgery, protocols for follow-up, and the use of radioiodine for the ablation of any residual thyroid and the treatment of metastatic cancer are discussed.128 references.
Metastatic medullary thyroid cancer: localization with iodine-131 metaiodobenzylguanidine
A patient in whom metastatic medullary thyroid cancer was diagnosed underwent a scintigraphic examination using (/sup 131/I)MIBG. Multiple hot lesions and diffuse hepatic uptake were noted corresponding to bone and liver metastases. Iodine-131 MIBG may prove to be useful for scintigraphic localization and for the treatment of medullary thyroid cancer as in pheochromocytoma and neuroblastoma.
Metastatic medullary thyroid cancer: localization with iodine-131 metaiodobenzylguanidine
1985-06-01
A patient in whom metastatic medullary thyroid cancer was diagnosed underwent a scintigraphic examination using (/sup 131/I)MIBG. Multiple hot lesions and diffuse hepatic uptake were noted corresponding to bone and liver metastases. Iodine-131 MIBG may prove to be useful for scintigraphic localization and for the treatment of medullary thyroid cancer as in pheochromocytoma and neuroblastoma.
Genetics of Medullary Thyroid Cancer (PDQ®) (Health Professional)
Expert-reviewed information summary about the genetics of medullary thyroid cancer and related disorders. This summary contains information about the RET gene, genetic testing, and clinical interventions. Psychosocial issues associated with genetic testing and counseling of individuals who may have a hereditary medullary thyroid cancer syndrome are also discussed.
Cervical lymph node metastases of medullary thyroid carcinoma: CT findings
1997-02-01
Medullary thyroid carcinoma (MTC) is a rare malignancy which spreads frequently to cervical lymph nodes. We report the CT findings of MTC metastatic cervical adenopathies in two patients with previously resected MTC. The CT scans showed calcifications (one patient) and massive homogeneous postcontrast nodal enhancement. Medullary thyroid carcinoma should be included in the differential diagnosis of entities showing calcifications and intense homogeneous adenopathic enhancement on CT studies. (orig.). With 3 figs.
Cervical lymph node metastases of medullary thyroid carcinoma: CT findings
1997-01-01
Medullary thyroid carcinoma (MTC) is a rare malignancy which spreads frequently to cervical lymph nodes. We report the CT findings of MTC metastatic cervical adenopathies in two patients with previously resected MTC. The CT scans showed calcifications (one patient) and massive homogeneous postcontrast nodal enhancement. Medullary thyroid carcinoma should be included in the differential diagnosis of entities showing calcifications and intense homogeneous adenopathic enhancement on CT studies. (orig.). With 3 figs
2007-01-01
Since the majority of multiple endocrine neoplasia type 2A (MEN 2A) patients have missense mutations at codon 634 and those with the Cys630 RET genotype mutations are extremely rare, limited clinical information is available about this rare type. We report here three members of one Japanese MEN 2A family with the Cys630Tyr genotype. A 67-year-old woman presented a firm thyroid nodule, and preoperative examination revealed medullary thyroid carcinoma with primary hyperparathyroidism and no pheochromocytoma. At surgery, bilateral medullary thyroid carcinomas and parathyroid adenoma were found. No lymph node metastasis was identified. Computed tomography scans and laboratory examination of blood have shown no evidence of tumor recurrence and no abnormality of parathyroid function during the 4 years after surgery. A 40-year-old man, the proband's son, was shown to have ... >>
Multiple endocrine neoplasia detection on I-123 MIBG imaging
2000-01-01
Full text: An 123I meta-iodobenzylguanidine (MIBG) scan was performed on a 54-year-old lady with familial phaeochromocytoma, to evaluate for bilateral or extra-adrenal disease. She has hypertension with raised catecholamines and CT evidence of a right adrenal phaeochromocytoma, and a female sibling with bilateral phaeochromocytoma. Thyroid blockade using Lugol's Iodine was given orally prior to intravenous administration of 370 MBq 123I MIBG. Planar and SPECT imaging were acquired at 24 hours. There was intense uptake in the known right phaeochromocytoma. An unexpected finding was focal intense uptake in the region of the right thyroid lobe, which may be either a functioning paraganglioma arising from the cervical sympathetic ganglia or a medullary thyroid carcinoma (MTC). At 48 hours, a further image of the neck showed no changes. This was ... >>
Thyroid disease in the pediatric patient: emphasizing imaging with sonography
2006-04-15
Thyroid disease does occur in the pediatric patient, and imaging plays an important role in its evaluation. A review is presented of normal development of the thyroid gland, the technique and indications for thyroid sonography, and key imaging features of congenital thyroid disorders (ectopic or absent thyroid, infantile goiter, thyroglossal duct remnants), benign thyroid masses (follicular adenoma, degenerative nodules, colloid and thyroid cysts), malignant masses (follicular, papillary and medullary carcinoma) and diffuse thyroid disease (acute bacterial thyroiditis, Hashimoto's thyroiditis, Grave's disease). (orig.)
Thyroid disease in the pediatric patient: emphasizing imaging with sonography
2006-01-01
Thyroid disease does occur in the pediatric patient, and imaging plays an important role in its evaluation. A review is presented of normal development of the thyroid gland, the technique and indications for thyroid sonography, and key imaging features of congenital thyroid disorders (ectopic or absent thyroid, infantile goiter, thyroglossal duct remnants), benign thyroid masses (follicular adenoma, degenerative nodules, colloid and thyroid cysts), malignant masses (follicular, papillary and medullary carcinoma) and diffuse thyroid disease (acute bacterial thyroiditis, Hashimoto's thyroiditis, Grave's disease). (orig.)
Radioiodine as an adjunct to the surgical treatment of medullary thyroid carcinoma
After total thyroidectomy for medullary thyroid carcinoma, a 50-yr-old male was found to have decreased but still abnormally elevated plasma calcitonin levels. A thyroid scan with /sup 131/I revealed remaining thyroid tissue primarily in the form of a thyroglossal duct remnant. Two courses of /sup 131/I treatment of 30 and 150 mCi, respectively, produced a gradual decrease in plasma calcitonin. This study demonstrates that carefully selected patients may benefit from the use of /sup 131/I treatment as an adjunct to surgery in medullary thyroid carcinoma.
Radioiodine as an adjunct to the surgical treatment of medullary thyroid carcinoma
1980-05-01
After total thyroidectomy for medullary thyroid carcinoma, a 50-yr-old male was found to have decreased but still abnormally elevated plasma calcitonin levels. A thyroid scan with /sup 131/I revealed remaining thyroid tissue primarily in the form of a thyroglossal duct remnant. Two courses of /sup 131/I treatment of 30 and 150 mCi, respectively, produced a gradual decrease in plasma calcitonin. This study demonstrates that carefully selected patients may benefit from the use of /sup 131/I treatment as an adjunct to surgery in medullary thyroid carcinoma.
2005-01-01
Germline mutations in specific hot spot-codons of the RET proto-oncogene are associated with multiple endocrine neoplasia type 2 (MEN 2). Clinical RET gene testing has been routine for the last 10 years in some countries. In Argentina, RET testing excluding MEN 2B was always reported with a mutation at codon 634, with one exception: we described a novel mutation T > C transition at codon 630 (C630R), the family to which we extend the study in the present report. This family comprised 29 members in four generations including 6 individuals affected with medullary thyroid cancer (MTC), positive for the C630R mutation and normal adrenaline/ noradrenaline and ionized calcium/parathyroid hormone levels. Two asymptomatic mutation carriers aged 5 and 11 years underwent total thyroidectomy. The his...
2005-01-01
Germline mutations in specific hot spot-codons of the RET proto-oncogene are associated with multiple endocrine neoplasia type 2 (MEN 2). Clinical RET gene testing has been routine for the last 10 years in some countries. In Argentina, RET testing excluding MEN 2B was always reported with a mutation at codon 634, with one exception: we described a novel mutation T > C transition at codon 630 (C630R), the family to which we extend the study in the present report. This family comprised 29 members in four generations including 6 individuals affected with medullary thyroid cancer (MTC), positive for the C630R mutation and normal adrenaline/ noradrenaline and ionized calcium/parathyroid hormone levels. Two asymptomatic mutation carriers aged 5 and 11 years underwent total thyroidectomy. The his...
Mutation analysis of the RET gene in individuals with sporadic and familial pheochromocytoma
1994-09-01
Pheochromocytoma is common to many familial cancer syndromes including multiple endocrine neoplasia type 2A (MEN2A), von Hippel-Lindau (VHL) and neurofibromatosis (NF). Although sporadic cases of pheochromocytoma have been examined for mutations in exons 10, 11 and 16 of the RET gene, only one case with a mutation in exon 16 has been reported thus far. We are performing systematic examination of exons of the RET gene, which has previously been associated with mutation in both MEN2 A and B, to determine the role RET may play in the etiology of pheochromocytoma. Seventeen cases of sporadic pheochromocytoma and 3 cases of sporadic medullary thyroid carcinoma were obtained from the pathology archives. Histopathology of all specimens was confirmed to be either pheochromocytoma or medullary thyroid carcinoma before DNA was extracted from 0.5{mu} thin sections of paraffin-embedded tissue. DNA from familial pheochromocytoma patients was also available for analysis. All sporadic and familial cases were amplified for exons 2, 6 and 16 of the RET gene. Single strand conformational polymorphism (SSCP) analysis was performed for exons 2 and 6. On finding a variation in the SSCP pattern in the pheochromocytoma kindred we sequenced all the samples for exon 2. A single base pair variation was found, which did not segregate with pheochromocytoma in the family. No variant SSCP patterns have been observed with the exon 6 PCR products thus far. Exon 16 PCR products were subjected to DNA restriction analysis with Fok I. This enzyme detects a single base pair change associated with MEN2 B. With the exception of one sample with sporadic medullary thyroid carcinoma, all samples showed the normal pattern on DNA restriction analysis. Thus we can exclude exons 2 and 6 of the RET gene in the pathogenesis of pheochromocytoma. SSCP analyses with other exons in the RET gene are underway.
1993-01-01
From June 1971 to September 1989, 38 patients had been treated for medullary carcinoma of the thyroid (MCT). Four patients were excluded from the study, because they were rapidly lost of follow up. We have distinguished three groups: i) group 1 (infra-clinic tumor diagnosed at the time of family investigation): four cases treated by radical thyroidectomy and bilateral cervical evidement. Ii) group 2 (bulky cervical tumor with metastatic spread): three patients treated with a palliative intent. Iii) group 3 (bulky cervical tumor with metastatic spread): 27 patients treated by thyroidectomy (with cervical lymph mode dissection in 23 cases) and post-operative radiotherapy for 20 patients who had histopathologic invading nodes or a large extracapsular spreading. All patients from the group 1 are alive free of recurrence and the median follow up time is 35 months. In group 2: two ... >>
2005-01-01
A 51/2-year-old boy, with a family history of multiple endocrine neoplasia (MEN)-2A syndrome, was evaluated for presence of MEN-2A and medullary thyroid carcinoma (MTC). DNA diagnostics confirmed MEN-2A. Basal (360 ng/L) and pentagastrin stimulated (430 ng/L) calcitonin (CT) levels were slightly elevated, plasma carcinoembryonic antigen (CEA) was normal. Within a year both tumor markers increased and total thyroidectomy was performed. Histologic examination did not show MTC. In the following years, both tumor markers increased progressively but despite the use of multiple imaging techniques no metastases were localized. After 6 years, biopsy of a palpable lymph node showed MTC. The boy was treated with total cervical, suprahyoidal, and mediastinal lymph node dissection, showing MTC in almo...
2008-01-01
Multiple endocrine neoplasia type 2 (M.E.N.-2) is a dominantly inherited cancer syndrome that comprises three clinical subtypes: M.E.N. type 2 A (M.E.N.-2 A), M.E.N. type 2 B (M.E.N.-2 B) and familial medullary thyroid carcinoma (F.M.T.C.). Medullary thyroid carcinoma (M.T.C.) is characterized by a malignant tumor arising from calcitonin-secreting thyroid C cells. Mutations of the receptor tyrosine kinase Ret are implicated in these pathologies. A transgenic model of mice has been created which express the human mutated form of Ret (Ret C 63 4 Y) implicated in M.E.N.-2 A [1]. These mice displayed first overt bilateral C cell hyperplasia and subsequently, after more than one year, developed multifocal and bilateral MTC which are morphologically and biologically similar to human M.E.N.-2 A M.T.C.. We decided to evaluate different imaging modalities in this transgenic ... >>
FDG and thyroid medullary cancer; FDG et cancer medullaire de la thyroide
2003-06-01
In this study the performances of the PET in the localization of the residual illness of thyroid medullar cancers appear less satisfying than these ones of others teams. The association of KT and PET allows to get encouraging results. (N.C.)
FDG and thyroid medullary cancer FDG et cancer medullaire de la thyroide
2003-01-01
In this study the performances of the PET in the localization of the residual illness of thyroid medullar cancers appear less satisfying than these ones of others teams. The association of KT and PET allows to get encouraging results. (N.C.)
Multiple endocrine neoplasia type 2
Full Text Available.Multiple Endocrine Neoplasia Type 2 (MEN2) is a rare hereditary complex disorder characterized by the presence of medullary thyroid carcinoma (MTC), unilateral or bilateral pheochromocytoma (PHEO) and other hyperplasia and/or neoplasia of different endocrine tissues within a single patient. MEN2 has been reported in approximately 500 to 1000 families worldwide and the prevalence has been estimated at approximately 1:30,000. Two different forms, sporadic and familial, have been described for MEN2. Sporadic form is represented by a case with two of the principal MEN2-related endocrine tumors. The familial form, which is more frequent and with an autosomal pattern of inheritance, consists of a MEN2 case with at least one first degree relative showing one of the characteristic endocrine tumors. Familial medullary thyroid carcinoma (FMTC) is a subtype of MEN2 in which the affected individuals develop only medullary thyroid carcinoma, without other clinical manifestations of MEN2. Predisposition to MEN2 is caused by germline activating mutations of the c-RET proto-oncogene on chromosome 10q11.2. The RET gene encodes a single-pass transmembrane tyrosine kinase that is the receptor for glial-derived neurotrophic growth factors. The combination of clinical and genetic investigations, together with the improved understanding of the molecular and clinical genetics of the syndrome, helps the diagnosis and treatment of patients. Currently, DNA testing makes possible the early detection of asymptomatic gene carriers, allowing to identify and treat the neoplastic lesions at an earlier stage. In particular, the identification of a strong genotype-phenotype correlation in MEN2 syndrome may enable a more individualized treatment for the patients, improving their quality of life. At present, surgical treatment offers the only chance of cure and therefore, early clinical and genetic detection and prophylactic surgery in subjects at risk are the main therapeutic goal.
Medullary thyroid cancer: RET testing of an archival material
2010-01-01
Medullary thyroid carcinoma (MTC) might be sporadic (75%) or hereditary (25%). Until the mid nineties the diagnosis of hereditary MTC was based on family history, clinical evaluation, histological detection of C-cell hyperplasia and tumor multifocality. Patients and families with hereditary MTC might be missed? Today mutation analysis of the RET proto-oncogene is routinely performed on DNA. Departments of pathology often store tissue specimens from performed surgical procedures. The purpose of this study was to examine if analysis of DNA extracted from formalin fixed archival tissue might be a possible method to identify not previously known cases of hereditary MTC. In 23 cases, tissue analysis was performed, and in 2 patients (9%) a mutation was identified, but in both cases the most likely explanation was contamination with tumor tissue. The ability to detect RET mutations was confirmed by testing of non-tumor tissue from patients with known hereditary MTC. This study shows that genetic testing of archival MTC material is technically possible and might be a way of identifying patients with previously not recognized hereditary MTC.
Medullary thyroid cancer: RET testing of an archival material
2010-01-01
Medullary thyroid carcinoma (MTC) might be sporadic (75%) or hereditary (25%). Until the mid nineties the diagnosis of hereditary MTC was based on family history, clinical evaluation, histological detection of C-cell hyperplasia and tumor multifocality. Patients and families with hereditary MTC might be missed? Today mutation analysis of the RET proto-oncogene is routinely performed on DNA. Departments of pathology often store tissue specimens from performed surgical procedures. The purpose of this study was to examine if analysis of DNA extracted from formalin fixed archival tissue might be a possible method to identify not previously known cases of hereditary MTC. In 23 cases, tissue analysis was performed, and in 2 patients (9%) a mutation was identified, but in both cases the most likely explanation was contamination with tumor tissue. The ability to detect RET mutations was confirmed by testing of non-tumor tissue from patients with known hereditary MTC. This study shows that genetic testing of archival MTC material is technically possible and might be a way of identifying patients with previously not recognized hereditary MTC.
Medullary thyroid cancer: RET testing of an archival material
2010-01-01
Medullary thyroid carcinoma (MTC) might be sporadic (75%) or hereditary (25%). Until the mid nineties the diagnosis of hereditary MTC was based on family history, clinical evaluation, histological detection of C-cell hyperplasia and tumor multifocality. Patients and families with hereditary MTC might be missed? Today mutation analysis of the RET proto-oncogene is routinely performed on DNA. Departments of pathology often store tissue specimens from performed surgical procedures. The purpose of this study was to examine if analysis of DNA extracted from formalin fixed archival tissue might be a possible method to identify not previously known cases of hereditary MTC. In 23 cases, tissue analysis was performed, and in 2 patients (9%) a mutation was identified, but in both cases the most likely explanation was contamination with tumor tissue. The ability to detect RET mutations was confirmed by testing of non-tumor tissue from patients with known hereditary MTC. This study shows that genetic testing of archival MTC material is technically possible and might be a way of identifying patients with previously not recognized hereditary MTC.
Medullary thyroid cancer: RET testing of an archival material
2010-01-01
Medullary thyroid carcinoma (MTC) might be sporadic (75%) or hereditary (25%). Until the mid nineties the diagnosis of hereditary MTC was based on family history, clinical evaluation, histological detection of C-cell hyperplasia and tumor multifocality. Patients and families with hereditary MTC might be missed? Today mutation analysis of the RET proto-oncogene is routinely performed on DNA. Departments of pathology often store tissue specimens from performed surgical procedures. The purpose of this study was to examine if analysis of DNA extracted from formalin fixed archival tissue might be a possible method to identify not previously known cases of hereditary MTC. In 23 cases, tissue analysis was performed, and in 2 patients (9%) a mutation was identified, but in both cases the most likely explanation was contamination with tumor tissue. The ability to detect RET mutations was confirmed by testing of non-tumor tissue from patients with known hereditary MTC. This study shows that genetic testing of archival MTC material is technically possible and might be a way of identifying patients with previously not recognized hereditary MTC.
Medullary thyroid cancer: RET testing of an archival material
2010-01-01
Medullary thyroid carcinoma (MTC) might be sporadic (75%) or hereditary (25%). Until the mid nineties the diagnosis of hereditary MTC was based on family history, clinical evaluation, histological detection of C-cell hyperplasia and tumor multifocality. Patients and families with hereditary MTC might be missed? Today mutation analysis of the RET proto-oncogene is routinely performed on DNA. Departments of pathology often store tissue specimens from performed surgical procedures. The purpose of this study was to examine if analysis of DNA extracted from formalin fixed archival tissue might be a possible method to identify not previously known cases of hereditary MTC. In 23 cases, tissue analysis was performed, and in 2 patients (9%) a mutation was identified, but in both cases the most likely explanation was contamination with tumor tissue. The ability to detect RET mutations was confirmed by testing of non-tumor tissue from patients with known hereditary MTC. This study shows that genetic testing of archival MTC material is technically possible and might be a way of identifying patients with previously not recognized hereditary MTC.
Medullary thyroid cancer: RET testing of an archival material
2010-01-01
Medullary thyroid carcinoma (MTC) might be sporadic (75%) or hereditary (25%). Until the mid nineties the diagnosis of hereditary MTC was based on family history, clinical evaluation, histological detection of C-cell hyperplasia and tumor multifocality. Patients and families with hereditary MTC might be missed? Today mutation analysis of the RET proto-oncogene is routinely performed on DNA. Departments of pathology often store tissue specimens from performed surgical procedures. The purpose of this study was to examine if analysis of DNA extracted from formalin fixed archival tissue might be a possible method to identify not previously known cases of hereditary MTC. In 23 cases, tissue analysis was performed, and in 2 patients (9%) a mutation was identified, but in both cases the most likely explanation was contamination with tumor tissue. The ability to detect RET mutations was confirmed by testing of non-tumor tissue from patients with known hereditary MTC. This study shows that genetic testing of archival MTC material is technically possible and might be a way of identifying patients with previously not recognized hereditary MTC.
Medullary thyroid cancer: RET testing of an archival material
2010-01-01
Medullary thyroid carcinoma (MTC) might be sporadic (75%) or hereditary (25%). Until the mid nineties the diagnosis of hereditary MTC was based on family history, clinical evaluation, histological detection of C-cell hyperplasia and tumor multifocality. Patients and families with hereditary MTC might be missed? Today mutation analysis of the RET proto-oncogene is routinely performed on DNA. Departments of pathology often store tissue specimens from performed surgical procedures. The purpose of this study was to examine if analysis of DNA extracted from formalin fixed archival tissue might be a possible method to identify not previously known cases of hereditary MTC. In 23 cases, tissue analysis was performed, and in 2 patients (9%) a mutation was identified, but in both cases the most likely explanation was contamination with tumor tissue. The ability to detect RET mutations was confirmed by testing of non-tumor tissue from patients with known hereditary MTC. This study shows that genetic testing of archival MTC material is technically possible and might be a way of identifying patients with previously not recognized hereditary MTC.
Medullary thyroid cancer: RET testing of an archival material
2010-01-01
Medullary thyroid carcinoma (MTC) might be sporadic (75%) or hereditary (25%). Until the mid nineties the diagnosis of hereditary MTC was based on family history, clinical evaluation, histological detection of C-cell hyperplasia and tumor multifocality. Patients and families with hereditary MTC might be missed? Today mutation analysis of the RET proto-oncogene is routinely performed on DNA. Departments of pathology often store tissue specimens from performed surgical procedures. The purpose of this study was to examine if analysis of DNA extracted from formalin fixed archival tissue might be a possible method to identify not previously known cases of hereditary MTC. In 23 cases, tissue analysis was performed, and in 2 patients (9%) a mutation was identified, but in both cases the most likely explanation was contamination with tumor tissue. The ability to detect RET mutations was confirmed by testing of non-tumor tissue from patients with known hereditary MTC. This study shows that genetic testing of archival MTC material is technically possible and might be a way of identifying patients with previously not recognized hereditary MTC.
Medullary thyroid cancer: RET testing of an archival material
2009-01-01
Medullary thyroid carcinoma (MTC) might be sporadic (75%) or hereditary (25%). Until the mid nineties the diagnosis of hereditary MTC was based on family history, clinical evaluation, histological detection of C-cell hyperplasia and tumor multifocality. Patients and families with hereditary MTC might be missed? Today mutation analysis of the RET proto-oncogene is routinely performed on DNA. Departments of pathology often store tissue specimens from performed surgical procedures. The purpose of this study was to examine if analysis of DNA extracted from formalin fixed archival tissue might be a possible method to identify not previously known cases of hereditary MTC. In 23 cases, tissue analysis was performed, and in 2 patients (9%) a mutation was identified, but in both cases the most likely explanation was contamination with tumor tissue. The ability to detect RET mutations was confirmed by testing of non-tumor tissue from patients with known hereditary MTC. This study shows that genetic testing of archival MTC material is technically possible and might be a way of identifying patients with previously not recognized hereditary MTC.
Medullary thyroid cancer: RET testing of an archival material
2009-01-01
Medullary thyroid carcinoma (MTC) might be sporadic (75%) or hereditary (25%). Until the mid nineties the diagnosis of hereditary MTC was based on family history, clinical evaluation, histological detection of C-cell hyperplasia and tumor multifocality. Patients and families with hereditary MTC might be missed? Today mutation analysis of the RET proto-oncogene is routinely performed on DNA. Departments of pathology often store tissue specimens from performed surgical procedures. The purpose of this study was to examine if analysis of DNA extracted from formalin fixed archival tissue might be a possible method to identify not previously known cases of hereditary MTC. In 23 cases, tissue analysis was performed, and in 2 patients (9%) a mutation was identified, but in both cases the most likely explanation was contamination with tumor tissue. The ability to detect RET mutations was confirmed by testing of non-tumor tissue from patients with known hereditary MTC. This study shows that genetic testing of archival MTC material is technically possible and might be a way of identifying patients with previously not recognized hereditary MTC.
Fifty meta-iodobenzylguanidine (MIBG) scintiscans were performed in three groups of medullary thyroid cancer (MTC) patients. Group 1 (n = 11) included treated patients with normal calcitonin levels; Group 2 (n = 24) included patients with elevated calcitonin levels due to sporadic and isolated MTC; Group 3 (n = 15) included patients with elevated calcitonin levels due to familial MTC or multiple endocrine neoplasia Type IIA syndrome (MEN). In Group 1 three pheochromocytoma were depicted by MIBG scintiscan. In Group 2 MTC was seen in a small number of patients (3 of 24). In Group 3, besides adrenal hyperplasia and pheochromocytoma four patients, MIBG scintigraphy showed where MTC had localized and spread in almost half of patients (7 of 15). MIBG uptake occurred in patients with relatively high calcitonin level (greater than 0.6 nmol/l). These data indicate that in patients with familial MTC or MEN syndrome, MIBG scintiscan can be useful not only in detecting associated pheochromocytoma, but also in showing MTC.
Medullary thyroid cancer: RET testing of an archival material
2010-01-01
Medullary thyroid carcinoma (MTC) might be sporadic (75%) or hereditary (25%). Until the mid nineties the diagnosis of hereditary MTC was based on family history, clinical evaluation, histological detection of C-cell hyperplasia and tumor multifocality. Patients and families with hereditary MTC might be missed? Today mutation analysis of the RET proto-oncogene is routinely performed on DNA. Departments of pathology often store tissue specimens from performed surgical procedures. The purpose of this study was to examine if analysis of DNA extracted from formalin fixed archival tissue might be a possible method to identify not previously known cases of hereditary MTC. In 23 cases, tissue analysis was performed, and in 2 patients (9%) a mutation was identified, but in both cases the most likely explanation was contamination with tumor tissue. The ability to detect RET mutations was confirmed by testing of non-tumor tissue from patients with known hereditary MTC. This study shows that genetic testing of archival MTC material is technically possible and might be a way of identifying patients with previously not recognized hereditary MTC.
Medullary thyroid cancer: RET testing of an archival material
2010-01-01
Medullary thyroid carcinoma (MTC) might be sporadic (75%) or hereditary (25%). Until the mid nineties the diagnosis of hereditary MTC was based on family history, clinical evaluation, histological detection of C-cell hyperplasia and tumor multifocality. Patients and families with hereditary MTC might be missed? Today mutation analysis of the RET proto-oncogene is routinely performed on DNA. Departments of pathology often store tissue specimens from performed surgical procedures. The purpose of this study was to examine if analysis of DNA extracted from formalin fixed archival tissue might be a possible method to identify not previously known cases of hereditary MTC. In 23 cases, tissue analysis was performed, and in 2 patients (9%) a mutation was identified, but in both cases the most likely explanation was contamination with tumor tissue. The ability to detect RET mutations was confirmed by testing of non-tumor tissue from patients with known hereditary MTC. This study shows that genetic testing of archival MTC material is technically possible and might be a way of identifying patients with previously not recognized hereditary MTC.
Medullary thyroid cancer: RET testing of an archival material
2010-01-01
Medullary thyroid carcinoma (MTC) might be sporadic (75%) or hereditary (25%). Until the mid nineties the diagnosis of hereditary MTC was based on family history, clinical evaluation, histological detection of C-cell hyperplasia and tumor multifocality. Patients and families with hereditary MTC might be missed? Today mutation analysis of the RET proto-oncogene is routinely performed on DNA. Departments of pathology often store tissue specimens from performed surgical procedures. The purpose of this study was to examine if analysis of DNA extracted from formalin fixed archival tissue might be a possible method to identify not previously known cases of hereditary MTC. In 23 cases, tissue analysis was performed, and in 2 patients (9%) a mutation was identified, but in both cases the most likely explanation was contamination with tumor tissue. The ability to detect RET mutations was confirmed by testing of non-tumor tissue from patients with known hereditary MTC. This study shows that genetic testing of archival MTC material is technically possible and might be a way of identifying patients with previously not recognized hereditary MTC.
Medullary thyroid cancer: RET testing of an archival material
2010-01-01
Medullary thyroid carcinoma (MTC) might be sporadic (75%) or hereditary (25%). Until the mid nineties the diagnosis of hereditary MTC was based on family history, clinical evaluation, histological detection of C-cell hyperplasia and tumor multifocality. Patients and families with hereditary MTC might be missed? Today mutation analysis of the RET proto-oncogene is routinely performed on DNA. Departments of pathology often store tissue specimens from performed surgical procedures. The purpose of this study was to examine if analysis of DNA extracted from formalin fixed archival tissue might be a possible method to identify not previously known cases of hereditary MTC. In 23 cases, tissue analysis was performed, and in 2 patients (9%) a mutation was identified, but in both cases the most likely explanation was contamination with tumor tissue. The ability to detect RET mutations was confirmed by testing of non-tumor tissue from patients with known hereditary MTC. This study shows that genetic testing of archival MTC material is technically possible and might be a way of identifying patients with previously not recognized hereditary MTC.
Medullary thyroid cancer: RET testing of an archival material
2010-01-01
Medullary thyroid carcinoma (MTC) might be sporadic (75%) or hereditary (25%). Until the mid nineties the diagnosis of hereditary MTC was based on family history, clinical evaluation, histological detection of C-cell hyperplasia and tumor multifocality. Patients and families with hereditary MTC might be missed? Today mutation analysis of the RET proto-oncogene is routinely performed on DNA. Departments of pathology often store tissue specimens from performed surgical procedures. The purpose of this study was to examine if analysis of DNA extracted from formalin fixed archival tissue might be a possible method to identify not previously known cases of hereditary MTC. In 23 cases, tissue analysis was performed, and in 2 patients (9%) a mutation was identified, but in both cases the most likely explanation was contamination with tumor tissue. The ability to detect RET mutations was confirmed by testing of non-tumor tissue from patients with known hereditary MTC. This study shows that genetic testing of archival MTC material is technically possible and might be a way of identifying patients with previously not recognized hereditary MTC.
Medullary thyroid cancer: RET testing of an archival material
2010-01-01
Medullary thyroid carcinoma (MTC) might be sporadic (75%) or hereditary (25%). Until the mid nineties the diagnosis of hereditary MTC was based on family history, clinical evaluation, histological detection of C-cell hyperplasia and tumor multifocality. Patients and families with hereditary MTC might be missed? Today mutation analysis of the RET proto-oncogene is routinely performed on DNA. Departments of pathology often store tissue specimens from performed surgical procedures. The purpose of this study was to examine if analysis of DNA extracted from formalin fixed archival tissue might be a possible method to identify not previously known cases of hereditary MTC. In 23 cases, tissue analysis was performed, and in 2 patients (9%) a mutation was identified, but in both cases the most likely explanation was contamination with tumor tissue. The ability to detect RET mutations was confirmed by testing of non-tumor tissue from patients with known hereditary MTC. This study shows that genetic testing of archival MTC material is technically possible and might be a way of identifying patients with previously not recognized hereditary MTC.
Medullary thyroid cancer: RET testing of an archival material
2010-01-01
Medullary thyroid carcinoma (MTC) might be sporadic (75%) or hereditary (25%). Until the mid nineties the diagnosis of hereditary MTC was based on family history, clinical evaluation, histological detection of C-cell hyperplasia and tumor multifocality. Patients and families with hereditary MTC might be missed? Today mutation analysis of the RET proto-oncogene is routinely performed on DNA. Departments of pathology often store tissue specimens from performed surgical procedures. The purpose of this study was to examine if analysis of DNA extracted from formalin fixed archival tissue might be a possible method to identify not previously known cases of hereditary MTC. In 23 cases, tissue analysis was performed, and in 2 patients (9%) a mutation was identified, but in both cases the most likely explanation was contamination with tumor tissue. The ability to detect RET mutations was confirmed by testing of non-tumor tissue from patients with known hereditary MTC. This study shows that genetic testing of archival MTC material is technically possible and might be a way of identifying patients with previously not recognized hereditary MTC.
Medullary thyroid cancer: RET testing of an archival material
2010-01-01
Medullary thyroid carcinoma (MTC) might be sporadic (75%) or hereditary (25%). Until the mid nineties the diagnosis of hereditary MTC was based on family history, clinical evaluation, histological detection of C-cell hyperplasia and tumor multifocality. Patients and families with hereditary MTC might be missed? Today mutation analysis of the RET proto-oncogene is routinely performed on DNA. Departments of pathology often store tissue specimens from performed surgical procedures. The purpose of this study was to examine if analysis of DNA extracted from formalin fixed archival tissue might be a possible method to identify not previously known cases of hereditary MTC. In 23 cases, tissue analysis was performed, and in 2 patients (9%) a mutation was identified, but in both cases the most likely explanation was contamination with tumor tissue. The ability to detect RET mutations was confirmed by testing of non-tumor tissue from patients with known hereditary MTC. This study shows that genetic testing of archival MTC material is technically possible and might be a way of identifying patients with previously not recognized hereditary MTC.
Medullary thyroid cancer: RET testing of an archival material
2010-01-01
Medullary thyroid carcinoma (MTC) might be sporadic (75%) or hereditary (25%). Until the mid nineties the diagnosis of hereditary MTC was based on family history, clinical evaluation, histological detection of C-cell hyperplasia and tumor multifocality. Patients and families with hereditary MTC might be missed? Today mutation analysis of the RET proto-oncogene is routinely performed on DNA. Departments of pathology often store tissue specimens from performed surgical procedures. The purpose of this study was to examine if analysis of DNA extracted from formalin fixed archival tissue might be a possible method to identify not previously known cases of hereditary MTC. In 23 cases, tissue analysis was performed, and in 2 patients (9%) a mutation was identified, but in both cases the most likely explanation was contamination with tumor tissue. The ability to detect RET mutations was confirmed by testing of non-tumor tissue from patients with known hereditary MTC. This study shows that genetic testing of archival MTC material is technically possible and might be a way of identifying patients with previously not recognized hereditary MTC.
Medullary thyroid cancer: RET testing of an archival material
2010-01-01
Medullary thyroid carcinoma (MTC) might be sporadic (75%) or hereditary (25%). Until the mid nineties the diagnosis of hereditary MTC was based on family history, clinical evaluation, histological detection of C-cell hyperplasia and tumor multifocality. Patients and families with hereditary MTC might be missed? Today mutation analysis of the RET proto-oncogene is routinely performed on DNA. Departments of pathology often store tissue specimens from performed surgical procedures. The purpose of this study was to examine if analysis of DNA extracted from formalin fixed archival tissue might be a possible method to identify not previously known cases of hereditary MTC. In 23 cases, tissue analysis was performed, and in 2 patients (9%) a mutation was identified, but in both cases the most likely explanation was contamination with tumor tissue. The ability to detect RET mutations was confirmed by testing of non-tumor tissue from patients with known hereditary MTC. This study shows that genetic testing of archival MTC material is technically possible and might be a way of identifying patients with previously not recognized hereditary MTC.
Medullary thyroid cancer: RET testing of an archival material
2010-01-01
Medullary thyroid carcinoma (MTC) might be sporadic (75%) or hereditary (25%). Until the mid nineties the diagnosis of hereditary MTC was based on family history, clinical evaluation, histological detection of C-cell hyperplasia and tumor multifocality. Patients and families with hereditary MTC might be missed? Today mutation analysis of the RET proto-oncogene is routinely performed on DNA. Departments of pathology often store tissue specimens from performed surgical procedures. The purpose of this study was to examine if analysis of DNA extracted from formalin fixed archival tissue might be a possible method to identify not previously known cases of hereditary MTC. In 23 cases, tissue analysis was performed, and in 2 patients (9%) a mutation was identified, but in both cases the most likely explanation was contamination with tumor tissue. The ability to detect RET mutations was confirmed by testing of non-tumor tissue from patients with known hereditary MTC. This study shows that genetic testing of archival MTC material is technically possible and might be a way of identifying patients with previously not recognized hereditary MTC.
Medullary thyroid cancer: RET testing of an archival material
2010-01-01
Medullary thyroid carcinoma (MTC) might be sporadic (75%) or hereditary (25%). Until the mid nineties the diagnosis of hereditary MTC was based on family history, clinical evaluation, histological detection of C-cell hyperplasia and tumor multifocality. Patients and families with hereditary MTC might be missed? Today mutation analysis of the RET proto-oncogene is routinely performed on DNA. Departments of pathology often store tissue specimens from performed surgical procedures. The purpose of this study was to examine if analysis of DNA extracted from formalin fixed archival tissue might be a possible method to identify not previously known cases of hereditary MTC. In 23 cases, tissue analysis was performed, and in 2 patients (9%) a mutation was identified, but in both cases the most likely explanation was contamination with tumor tissue. The ability to detect RET mutations was confirmed by testing of non-tumor tissue from patients with known hereditary MTC. This study shows that genetic testing of archival MTC material is technically possible and might be a way of identifying patients with previously not recognized hereditary MTC.
Medullary thyroid cancer: RET testing of an archival material
2010-01-01
Medullary thyroid carcinoma (MTC) might be sporadic (75%) or hereditary (25%). Until the mid nineties the diagnosis of hereditary MTC was based on family history, clinical evaluation, histological detection of C-cell hyperplasia and tumor multifocality. Patients and families with hereditary MTC might be missed? Today mutation analysis of the RET proto-oncogene is routinely performed on DNA. Departments of pathology often store tissue specimens from performed surgical procedures. The purpose of this study was to examine if analysis of DNA extracted from formalin fixed archival tissue might be a possible method to identify not previously known cases of hereditary MTC. In 23 cases, tissue analysis was performed, and in 2 patients (9%) a mutation was identified, but in both cases the most likely explanation was contamination with tumor tissue. The ability to detect RET mutations was confirmed by testing of non-tumor tissue from patients with known hereditary MTC. This study shows that genetic testing of archival MTC material is technically possible and might be a way of identifying patients with previously not recognized hereditary MTC.
Medullary thyroid cancer: RET testing of an archival material
2010-01-01
Medullary thyroid carcinoma (MTC) might be sporadic (75%) or hereditary (25%). Until the mid nineties the diagnosis of hereditary MTC was based on family history, clinical evaluation, histological detection of C-cell hyperplasia and tumor multifocality. Patients and families with hereditary MTC might be missed? Today mutation analysis of the RET proto-oncogene is routinely performed on DNA. Departments of pathology often store tissue specimens from performed surgical procedures. The purpose of this study was to examine if analysis of DNA extracted from formalin fixed archival tissue might be a possible method to identify not previously known cases of hereditary MTC. In 23 cases, tissue analysis was performed, and in 2 patients (9%) a mutation was identified, but in both cases the most likely explanation was contamination with tumor tissue. The ability to detect RET mutations was confirmed by testing of non-tumor tissue from patients with known hereditary MTC. This study shows that genetic testing of archival MTC material is technically possible and might be a way of identifying patients with previously not recognized hereditary MTC.
Medullary thyroid cancer: RET testing of an archival material
2010-01-01
Medullary thyroid carcinoma (MTC) might be sporadic (75%) or hereditary (25%). Until the mid nineties the diagnosis of hereditary MTC was based on family history, clinical evaluation, histological detection of C-cell hyperplasia and tumor multifocality. Patients and families with hereditary MTC might be missed? Today mutation analysis of the RET proto-oncogene is routinely performed on DNA. Departments of pathology often store tissue specimens from performed surgical procedures. The purpose of this study was to examine if analysis of DNA extracted from formalin fixed archival tissue might be a possible method to identify not previously known cases of hereditary MTC. In 23 cases, tissue analysis was performed, and in 2 patients (9%) a mutation was identified, but in both cases the most likely explanation was contamination with tumor tissue. The ability to detect RET mutations was confirmed by testing of non-tumor tissue from patients with known hereditary MTC. This study shows that genetic testing of archival MTC material is technically possible and might be a way of identifying patients with previously not recognized hereditary MTC.
Medullary thyroid cancer: RET testing of an archival material
2010-01-01
Medullary thyroid carcinoma (MTC) might be sporadic (75%) or hereditary (25%). Until the mid nineties the diagnosis of hereditary MTC was based on family history, clinical evaluation, histological detection of C-cell hyperplasia and tumor multifocality. Patients and families with hereditary MTC might be missed? Today mutation analysis of the RET proto-oncogene is routinely performed on DNA. Departments of pathology often store tissue specimens from performed surgical procedures. The purpose of this study was to examine if analysis of DNA extracted from formalin fixed archival tissue might be a possible method to identify not previously known cases of hereditary MTC. In 23 cases, tissue analysis was performed, and in 2 patients (9%) a mutation was identified, but in both cases the most likely explanation was contamination with tumor tissue. The ability to detect RET mutations was confirmed by testing of non-tumor tissue from patients with known hereditary MTC. This study shows that genetic testing of archival MTC material is technically possible and might be a way of identifying patients with previously not recognized hereditary MTC.
2010-01-01
Introduction: Hirschsprung disease (HSCR) is associated with the later development of multiple endocrine neoplasia (MEN2), because RET gene variations are associated with both conditions. Specifically, HSCR-MEN2 cosegregation mostly relates to the cysteine-rich area at the RET-620 (the ''Janus gene''). Aim: The aim of this study was to explore the clinical and genetic associations of HSCR-MEN2 in a cohort of HSCR patients. Methods: RET gene variation was evaluated by heteroduplex single-strand conformational polymorphism analysis and validated with automated sequencing techniques in HSCR patients (including 18 kindreds). Those with RET C620 variations were subjected to familial evaluation for coexisting HSCR-MEN2. Results: A cohort of 118 patients with HSCR (n = 89) or medullary thyroid ca...
1994-12-31
The radiotherapy prescriptions depend on thyroid cancer histologic type and of its spread. We`ll study successively-the thyroid epitheliomas and the advantage of the metabolic radiotherapy with iodine 131 and of the external radiotherapy in case of remote metastases-the medullary thyroid cancers-the thyroid anaplastic cancers and the methods uniting surgery, chemotherapy and external radiotherapy. 21 refs., 2 tabs.
1994-01-01
The radiotherapy prescriptions depend on thyroid cancer histologic type and of its spread. We'll study successively-the thyroid epitheliomas and the advantage of the metabolic radiotherapy with iodine 131 and of the external radiotherapy in case of remote metastases-the medullary thyroid cancers-the thyroid anaplastic cancers and the methods uniting surgery, chemotherapy and external radiotherapy. 21 refs., 2 tabs
Detection of metastatic medullary thyroid cancer with /sup 131/I-MIBG scans in Sipple's syndrome
1986-04-01
While /sup 131/I-meta-iodobenzyl guanidine (/sup 131/I-MIBG) scanning has made possible the scintigraphic visualization of pheochromocytoma and neuroblastoma, an accumulation of this agent has recently been reported in medullary thyroid cancer. We present the case of a patient with Sipple's syndrome (multiple endocrine neoplasia type IIa), in whom we were able to identify distant metastases and local invasion of medullary thyroid cancer as well as primary thyroid tumour and right adrenal pheochromocytoma, using /sup 131/I-MIBG scans. This case highlights the usefulness /sup 131/I-MIBG in the detection of metastatic medullary thyroid cancer and suggests that this agent may also be of therapeutic use in the treatment of tumours.
1994-01-01
A 39-year-old woman with Sipple's syndrome and a malignant pheochromocytoma (PHE) is presented. She is a member of a big family with this syndrome and had undergone bilateral, subtotal adrenalectomy because of bilateral PHE six years prior to the present admission. In 1989, a small nodule was identified in her right thyroid lobe by ultrasonography and was suspected to be a medullary thyroid carcinoma (MTC). Further examinations revealed the coexistence of multiple lung and liver masses. These tumors were considered to be metastases of PHE because of the increased urinary excretion of catecholamines as well as extremely high catecholamines both in the hepatic venous blood and in the cystic fluid of the liver tumor even though there was no apparent recurrence of PHE in the adrenal region. After surgical removal of the MTC in August, 1989, she was given 3.7 GBq of ... >>
Identification of Two Novel Mutations in the RET Proto-Oncogene in the Same Family
2010-01-01
Background: Activating germline mutations of the RET gene cause multiple endocrine neoplasia type 2 and familial medullary thyroid carcinoma (FMTC), conditions that are inherited in an autosomal dominant manner. In addition, somatic RET mutations have been identified in a variable proportion (about 30–70%) of sporadic (nonfamilial) MTC cases. Methods: We describe a Greek family with two novel likely pathogenic sequence variants of the RET gene. The first is a C to T transition at position 2458 (c.2458C>T) that causes an arginine to cysteine substitution (p.R820C) in exon 14 in the intracellular region of the kinase. This sequence variant was identified in an apparently healthy woman who had a recently deceased sister with confirmed aggressive MTC (age of onset 37 years). To assess the pa...
2010-01-01
Full Text Available.Medullary thyroid carcinoma is a rare malignancy that arises from calcitonin-producing C-cells and frequently metastasizes to lymph nodes in the neck. Distant metastases may involve bone, lung, and liver. The infrequent number of cases limits the clinical nature and ability to optimize diagnostic tools. Here, we present a case of a micronodular radiographic pattern in metastatic medullary thyroid cancer in order to enhance awareness of the disease process. A case discussion and relevant review of the literature are provided.
The incidence, clinical presentation, and types of thyroid cancers presenting in childhood are reviewed. The role of antecedent radiation in papillary and follicular thyroid cancers and genetics of medullary thyroid carcinoma are discussed. Unique aspects of therapy and prognosis for the pediatric patient with thyroid carcinoma are addressed as well as a diagnostic approach to the child who presents with a neck mass.59 references.
1990-09-01
The incidence, clinical presentation, and types of thyroid cancers presenting in childhood are reviewed. The role of antecedent radiation in papillary and follicular thyroid cancers and genetics of medullary thyroid carcinoma are discussed. Unique aspects of therapy and prognosis for the pediatric patient with thyroid carcinoma are addressed as well as a diagnostic approach to the child who presents with a neck mass.59 references.
1990-01-01
The incidence, clinical presentation, and types of thyroid cancers presenting in childhood are reviewed. The role of antecedent radiation in papillary and follicular thyroid cancers and genetics of medullary thyroid carcinoma are discussed. Unique aspects of therapy and prognosis for the pediatric patient with thyroid carcinoma are addressed as well as a diagnostic approach to the child who presents with a neck mass.59 references
Thyroid cancers are especially common in patients who have received irradiation to the head and neck region for benign diseases. Well-differentiated papillary and/or follicular carcinomas are the most common types of thyroid cancer. They grow slowly and have a very good prognosis when managed with an appropriate combination of surgical and medical therapy. Other types of thyroid cancer often require more intensive therapy and follow-up. It is especially important to evaluate relatives of patients with medullary thyroid cancer.
1984-11-01
Thyroid cancers are especially common in patients who have received irradiation to the head and neck region for benign diseases. Well-differentiated papillary and/or follicular carcinomas are the most common types of thyroid cancer. They grow slowly and have a very good prognosis when managed with an appropriate combination of surgical and medical therapy. Other types of thyroid cancer often require more intensive therapy and follow-up. It is especially important to evaluate relatives of patients with medullary thyroid cancer.
Mixed medullary-papillary carcinoma of the thyroid: Report of a case and review of the literature
2009-01-01
Background. Mixed medullary-follicular thyroid carcinoma denotes a rare and heterogeneous group of tumors displaying morphological and immunophenotypical features of both origins within the same lesion. Method. We report a case of a 41-year-old woman with a lump in the right side of the neck, increasing in pain and size over several weeks. Serum levels of calcitonine (1140 ng/L) and carcinoembryonic antigen (288 mg/L) were very high. Fine-needle aspiration cytology suggested a diagnosis of medullary thyroid carcinoma. Total thyroidectomy, along with bilateral functional neck and mediastinal lymph-node dissection, were performed. Results. The histopathological examination yielded a diagnosis of medullary carcinoma in the right thyroid lobe, closely intermingled with a nonencapsulated classi...
Sporadic Medullary Thyroid Carcinoma: Clinical Data From A University Hospital
2009-05-01
Full Text Available.INTRODUCTION:Medullary thyroid carcinoma may occur in a sporadic (s-medullary thyroid carcinoma, 75%) or in a multiple endocrine neoplasia type 2 form (MEN2, 25%). These clinical forms differ in many ways, as s-medullary thyroid carcinoma cases are RET-negative in the germline and are typically diagnosed later than medullary thyroid carcinoma in MEN2 patients. In this study, a set of cases with s-medullary thyroid carcinoma are documented and explored.PURPOSE:To document the phenotypes observed in s-medullary thyroid carcinoma cases from a university group and to attempt to improve earlier diagnosis of s-medullary thyroid carcinoma. Some procedures for diagnostics are also recommended.METHOD:Patients (n=26) with apparent s-medullary thyroid carcinoma were studied. Their clinical data were reviewed and peripheral blood was collected and screened for RET germline mutations.RESULTS:The average age at diagnosis was 43.9 years (± 10.82 SD) and did not differ between males and females. Calcitonin levels were increased in all cases. Three patients presented values that were 100-fold greater than the normal upper limit. Most (61.54%) had values that were 20-fold below this limit. Carcinoembryonic antigen levels were high in 70.6% of cases. There was no significant association between age at diagnosis, basal calcitonin levels or time of disease onset with thyroid tumor size (0.6–15 cm). Routine thyroid cytology yielded disappointing diagnostic accuracy (46.7%) in this set of cases. After total thyroidectomy associated with extensive cervical lymph node resection, calcitonin values remained lower than 5 pg/mL for at least 12 months in eight of the cases (30.8%). Immunocyto- and histochemistry for calcitonin were positive in all analyzed cases. None of the 26 cases presented germline mutations in the classical hotspots of the RET proto-oncogene.CONCLUSION:Our cases were identified late. The basal calcitonin measurements and immunostaining for calcitonin were highly useful for diagnosing s-medullary thyroid carcinoma. The rate of complete patient recovery was low, and none of the parameters analyzed were useful predictors of the thyroid tumor size. Our findings support previous recommendations for routine serum calcitonin evaluation and immunostaining analysis involving single thyroid nodules.
Multiple endocrine neoplasia type 2A (MEN2A) and familial medullary thyroid carcinoma (FMTC) are autosomal dominant inherited cancer syndromes with incomplete penetrance. Following the identification of mutations in the RET proto-oncogene that segregate with the disease phenotype in MEN2A, MEN2B, and FMTC, genetic screening of individuals with mutations in RET may be performed. The authors have employed restriction endonuclease digestion of polymerase chain reaction products as an alternative to sequence analysis for rapid identification of mutant gene carriers in families in which MEN2A and RMTC are segregating. Twenty-one Australasian MEN2A and FMTC families have been screened for mutations in a cysteine-rich region of the RET proto-oncogene. Seven independent mutations were identified in key individuals in 16 of these families. The authors have identified a mutation in codon 620, 2053 T {r_arrow}C (Cys620Arg), and two mutations in codon 634 of exon 11 of RET, 2095 T {r_arrow} C (Cys634Arg) and 2096 G {r_arrow} A (Cys634Tyr), all three of which were present in both MEN2A and FMTC families. 7 refs., 1 fig., 1 tab.
1994-09-15
Multiple endocrine neoplasia type 2A (MEN2A) and familial medullary thyroid carcinoma (FMTC) are autosomal dominant inherited cancer syndromes with incomplete penetrance. Following the identification of mutations in the RET proto-oncogene that segregate with the disease phenotype in MEN2A, MEN2B, and FMTC, genetic screening of individuals with mutations in RET may be performed. The authors have employed restriction endonuclease digestion of polymerase chain reaction products as an alternative to sequence analysis for rapid identification of mutant gene carriers in families in which MEN2A and RMTC are segregating. Twenty-one Australasian MEN2A and FMTC families have been screened for mutations in a cysteine-rich region of the RET proto-oncogene. Seven independent mutations were identified in key individuals in 16 of these families. The authors have identified a mutation in codon 620, 2053 T {r_arrow}C (Cys620Arg), and two mutations in codon 634 of exon 11 of RET, 2095 T {r_arrow} C (Cys634Arg) and 2096 G {r_arrow} A (Cys634Tyr), all three of which were present in both MEN2A and FMTC families. 7 refs., 1 fig., 1 tab.
NEW ERA: PROPHYLACTIC SURGERY FOR PATIENTS WITH MULTIPLE ENDOCRINE NEOPLASIA-2A
2006-01-01
Background: The surgical management of patients with multiple endocrine neoplasia-2A (MEN-2A) continues to evolve with specific genotype-phenotype correlations allowing for a more tailored approach. In this study, we report the surgical management of one of the largest MEN-2A families with a rearranged during transfection (RET) codon 804 mutation. Method: This is a cohort study comprising all at-risk kindred within a single known MEN-2A family. Prophylactic total thyroidectomy with lymph node dissection was recommended to all mutation carriers aged 5 years and older. Results: There were a total of 48 at-risk individuals in the MEN-2A kindred, with 22 patients undergoing thyroidectomy after appropriate preoperative evaluation. A total of 9 patients had medullary thyroid cancer including 5 w...
Frequent RET protooncogene mutations in multiple endocrine neoplasia Type 2A
1994-08-01
The occurrence of mutations in the RET protooncogene has been investigated in 12 multiple endocrine neoplasia type 2A families and 18 cases of sporadic thyroid medullary carcinomas and pheochromocytomas. Ten of 12 families showed single base substitutions in the RET protooncogene exons 10 and 11, coding for the extracellular domain of the protein. Tumor tissues from 2 multiple endocrine neoplasia type 2A patients were analyzed at the DNA and ribonucleic acid levels and revealed the same heterozygous mutations found in the peripheral blood lymphocytes. This demonstrates that both the normal and mutant alleles are expressed. No mutations in these exons were detected in the 18 cases of sporadic tumors investigated. These data provide further evidence that the mutated RET protooncogene acts in a dominant fashion and is responsible for the pathogenesis of this syndrome. 28 refs., 2 figs., 1 tab.
Case of sipple syndrome with special reference to radiological diagnosis
It is the purpose of this paper to report a case of bilateral pheochromocytoma and medullary carcinoma of the thyroid. Ultrasonography, computed tomography, arteriography and venous sampling were performed. Findings are discussed and it is concluded that the most useful diagnostic tools are selective thyroid and adrenal venous sampling.
Case of sipple syndrome with special reference to radiological diagnosis
1982-08-01
It is the purpose of this paper to report a case of bilateral pheochromocytoma and medullary carcinoma of the thyroid. Ultrasonography, computed tomography, arteriography and venous sampling were performed. Findings are discussed and it is concluded that the most useful diagnostic tools are selective thyroid and adrenal venous sampling.
1995-12-31
Adrenal medullary disease (AMD) is clinically silent in most patients with medullary thyroid carcinoma (MTC). During 16 years, a series of 174 MTC patients was screened yearly for AMD. Metaiodobenzylguanidine (MIBG) scans were performed in 54 cases (21 at diagnosis and 33 during the follow up of MTC) either systematically (43 cases) or in patients with biological or ultrasonographic signs of AMD (11 cases). AMD was discovered in ten patients: five patients were already known to have a type II multiple endocrine neoplasia (MEN-2); in five patients previously considered as having either a sporadic (four cases) or a familial type of isolated MTC (one case), the occurrence of AMD led to diagnose a MEN-2 a syndrome. In three cases, AMD was bilateral. MIBG scan were performed in nine of the ten patients with AMD. No false positive MIBG scan was observed in the series. All patients with positive MIBG scan had either elevated excretion of catecholamines and derivates. MIBG scan had a sensitivity of 0.9 and specificity of 1. MIBG should not be used as a screening test. In particular, MIBG scan should not be performed systematically neither at diagnosis nor during follow-up. But, in cases with suspicion of AMD, it provides important complementary functional information. (authors). 15 refs., 3 tabs., 2 figs.
The role of PET in thyroid cancer
2002-06-01
The role of PET in the diagnosis and management of thyroid cancer is discussed. The major role of F-18 FDG PET is in patients with discordant negative I-131 scan and a positive serum thyroglobulin values. F-18 FDG PET scan localized metastatic sites in I-131 scan-negative thyroid carcinoma patients with high accuracy. F-18 PET is also valuable in medullary thyroid cancer with high calcitonin level. Focal thyroid uptake in patients with non-thyroidal disease has high likelihood of thyroid cancer.
The role of PET in thyroid cancer
2002-01-01
The role of PET in the diagnosis and management of thyroid cancer is discussed. The major role of F-18 FDG PET is in patients with discordant negative I-131 scan and a positive serum thyroglobulin values. F-18 FDG PET scan localized metastatic sites in I-131 scan-negative thyroid carcinoma patients with high accuracy. F-18 PET is also valuable in medullary thyroid cancer with high calcitonin level. Focal thyroid uptake in patients with non-thyroidal disease has high likelihood of thyroid cancer
Medullary Thyroid Cancer: Molecular Biology and Novel Molecular Therapies
2009-01-01
Abstract Medullary thyroid cancer (MTC) arises from neural-crest-derived parafollicular C cells of the thyroid gland and accounts for approximately 4% of all thyroid cancers. Up to 25-30% of MTC cases occur as inherited disorders while the remaining cases represent the sporadic form of the disease. In this review, the structure and signalling properties of the RET proto-oncogene in its wild-type and mutant forms, and its role in hereditary and sporadic MTC, are discussed. A full data search was performed through PubMed over the years 2000-2008 with the key words `medullary thyroid cancer, treatment, molecular biology, RET, molecular mechanism', and all relevant publications have been included, together with selected publications prior to that date. We also review novel therapies for metast...
Bcl-2 and c-Myc, but not bax and p53, are expressed during human medullary thyroid tumorigenesis.
1998-06-01
Full Text Available.Medullary thyroid carcinoma (MTC) is a tumor of parafollicular cells of the thyroid gland. It has served as a useful experimental model for the study of tumor proliferation and differentiation. Although recent studies have identified the gene involved in familial forms of MTC, little is known about the molecular pathogenesis of the sporadic variants of this tumor. It has become increasingly clear that deregulation of programmed cell death is a critical component in multistep tumorigenesis. The present investigation was undertaken to determine whether similar molecular events occur in human MTC. Eighteen MTCs from 18 patients (including 12 sporadic and six familial cases and one metastatic lymph gland) and a MTC cell line (TT cells) were used in this study for detecting the expression of apoptosis-regulatory genes bcl-2, bax, c-myc, and p53. Immunohistochemical results showed that all MTC tumor samples displayed Bcl-2 and c-Myc immunoreactivity, whereas only 4 and 2 tumors showed a minority of cells positive for Bax and p53, respectively. Western and Northern blotting showed high levels of 26-kd Bcl-2 protein and bcl-2 transcript. The co-expression of Bcl-2 and c-Myc was also detected in the TT cells by indirect fluorescence immunohistochemistry and Western blotting. Moreover, Bcl-2 immunoreactivity was also found in C-cell hyperplasia from familial patients indicating that expression of this oncogene may represent an early event in the pathogenesis of MTC. The present study suggests that deregulation of programmed cell death may be a critical component in multistep tumorigenesis of MTC and that the frequent expression of the Bcl-2 oncoprotein in these tumors may contribute to their pathogenesis. The genetic complementation of simultaneously deregulated bcl-2 and c-myc may be implicated in the multistep tumorigenesis of human MTC.ImagesFigure 1Figure 2Figure 3
Tumorscintigraphy with Tc-V-DMSA in patients with medullary thyroid cancer
1988-01-01
Recurrent or metastatic medullary thyroid cancer could be localized by 99mTc-V-DMSA scintigraphy in 3 out of 4 patients with advanced disease and high levels of calcitonin in serum. In cases with moderately elevated levels of calcitonin, only 1 out of 4 patients clearly showed tracer uptake to the tumor. These findings agree with recent reports in the literature. Unspecific uptake to benign bone lesions could be observed in 2 cases. (orig.)
2007-01-01
This article is based on a study made upon the 242 patients with the medullary carcinoma of the thyroid treated between 1968 and 2003. The extent of the operation depended on the size, localization and histological type of the cancer (sporadic and genetic). Combined treatment was composed from the surgical removal in association with preoperative or postoperative radiotherapy. (authors)
1995-02-01
Full Text Available.Combinations of 5-fluorouracil (5-FU) and streptozocin and 5-FU and dacarbazine were given alternately to 20 patients with metastatic medullary thyroid carcinoma. Three partial responses and 11 long-term stabilizations were observed. No unexpected toxicity occurred.
PET imaging of recurrent medullary thyroid cancer
1996-01-01
Medullary carcinoma of the thyroid gland is a rare tumor. Its prognosis is mainly linked to surgery, because there is no valid alternative therapy to improve patients outcome. In this report, we discuss the recurrence of such a tumor in a 64-year-old female, focusing on magnetic resonance imaging and positron emission tomography evaluation of this tumor. (orig.)
2008-07-01
Medullary thyroid carcinoma (MTC) arises from parafollicular C-cells of the thyroid and accounts for 1% to 10% of all thyroid cancers (1). MTC can be sporadic or hereditary. Hereditary MTC represents 20% to 30% of all MTC with an autosomal dominant pattern of transmission and a high degree of penetrance (>90%). It can be transmitted as a single entity (sporadic), familial MTC (FMTC), or it can arise as part of a multiple endocrine neoplasia (MEN) syndrome type 2A or 2B. Both genders are equally affected. (1, 9) The identification of hereditary MTC has been facilitated in recent years by the direct analysis of germline point mutations of the RET(rearranged during transfection)-protooncogene, a 21 exon gene that encodes a plasma membrane-bound tyrosine kinase receptor, localised on chromosome 10q11.2, which is expressed in tissues derived from the neural crest. To date codon mutations in nine different exons were identified (7, 8, 16, 22, 29) causing MEN 2A (MTC in combination with pheochromocytoma and hyperparathyroidism, including rare variants with Hirschsprung's disease and cutaneous lichen amyloidosis), FMTC (MTC as a sole disease phenotype) and MEN 2B (MTC in combination with pheochromocytoma, multiple mucosa neuromas, and marfanoid habitus). The most common mutation, accounting for over 80% of all mutations associated with MEN 2A (or Sipple's) syndrome affects codon 634 in exon 11 of the RET-protooncogene. Other mutations affect codon 630 in exon 11, and codons 609, 611, 618, 620 in exon 10 - they also cause FMTC, although some have a classic MEN 2A syndrome. 5% to 10% of families with FMTC have mutations that affect codons 768, 790, 791 in exon 13: codons 804, 844 in exon 14, and codon 891 in exon 15 (3, 4, 10). The much more aggressive MEN 2B is caused by a single mutation converting a methionine into a threonine at codon 918 in exon 16, and has been identified in approximately 95% of patients with MEN 2B. Other rare mutations associated with MEN 2B involve codon 883 in exon 15, and codon 922 in exon 16 (13, 27, 30). Here we report an extremely rare missense point mutation in exon 11 corresponding to a Ser649Leu substitution in the extra cellular cysteine-rich domain of the RET gene. The mutation cosegregates with mixed medullary-follicular micro-carcinoma in the index patient and C-cell hyperplasia (CCH) in two direct relatives. So far two other family members are mutation carriers without CCH and clinical signs of MTC, respectively. According to the WHO classification MMFC (mixed medullary-follicular carcinoma) show the morphologic features of medullary carcinoma with immunreactivity for calcitonin and morphologic features of follicular carcinoma with immunreactivity for thyroglobulin. They should be distinguished from MTC, follicular variant, and also from MTC with entrapped normal follicles. In our case the findings fulfilled the criteria of MMFC. (orig.)
2003-01-01
Medullary carcinoma of the thyroid, a malignant neoplasm of para follicular C cells, represent about 5-10% of thyroid tumors. The symptoms are related to local invasion and hormonal secretion. The clinical course is variable, from indolent cases to extremely aggressive. Many radionuclide imaging have been described to locate metastasis of medullary cancer. Tl-201 and Tc-99m (V)DMS A showed to be useful in the evaluation o persistent elevated serum calcitonin levels. On the other hand, the use of the 131 I-Mibg, that is the isotope more used, has not been demonstrating efficiency in identifying metastasis. Our objective is to report a case of a patient with medullary thyroid carcinoma in which the follow-up use DMS A(V) demonstrated a recurrence no identified for other methods. A 34-year-old man had a diagnosis of medullary thyroid carcinoma and has submitted a total ... >>
The thyroid tumors; Tumeurs de la thyroide
1997-09-01
This book is separated in four parts: the first one is devoted to the thyroid nodules. The second part develop the questions relative to the taking charge of the thyroid neoplasm: prognostic, initial treatment, (surgery, iodine 131, external radiotherapy) recurrence and metastases. The following part deals with the effects of radiations on thyroid. There is an analysis about the consequences of Chernobyl accident and gives an information on preventive measures in case of accidental contamination by iodine radioisotopes. The last part is devoted to others thyroid tumors such medullary cancer and anaphasic cancer. (N.C.).
Full Text Available.Medullary thyroid carcinomas (MTC) constitute about 5 to 7 % of thyroid neoplasms. They originate from parafollicular C-cells which can secrete adrenocorticotropic hormone (ACTH) and/or corticotropin-releasing factor (CRF) in abnormally high concentrations, potentially causing paraneoplastic Cushing's Syndrome (CS).We report on a 42-year-old male patient with a ten year history of metastatic medullary thyroid carcinoma suffering from paraneoplastic Cushing's Syndrome caused by ectopic hypersecretion of ACTH and a simultaneous Cortisol producing adrenal metastasis.
MR imaging of recurrent medullary thyroid carcinoma
1989-01-01
This study used MR imaging for the evaluation of recurrent medulla thyroid carcinoma. A total of 38 MR images were obtained in 20 patients with elevated calcitonin levels to check for recurrent medullary thyroid carcinoma. Surgical follow-up was obtained in 11 patients. In eight of 11 cases, surgery confirmed recurrence detected on MR images. In one case, MR imaging failed to demonstrate metastatic mediastinal nodes seen at surgery. In the remaining two cases, surgery confirmed the MR finding of no recurrence. The other nine patients were followed with serial MR images for an average of 26 months postoperatively without evidence of recurrence. This preliminary study has indicate that MR imaging might be a useful alternative to routine surgical exploration in patients with possible recurrent medullary thyroid carcinoma
Beyond RET: potential therapeutic approaches for advanced and metastatic medullary thyroid carcinoma
2009-01-01
Abstract. Santarpia L, Ye L, Gagel RF (The University of Texas MD Anderson Cancer Center, Texas, USA). Beyond RET: potential therapeutic approaches for advanced and metastatic medullary thyroid carcinoma (Review). J Intern Med 2009; 266: 99-113. Medullary thyroid carcinoma (MTC) is a rare calcitonin-producing neuroendocrine tumour that originates from the parafollicular C-cells of the thyroid gland. The RET proto-oncogene encodes the RET receptor tyrosine kinase, which has essential roles in cell survival, differentiation and proliferation. Activating mutations of RET are associated with the pathogenesis of MTC and have been demonstrated in nearly all hereditary and in 30-50% of sporadic MTC cases, making this receptor an excellent target for small-molecule inhibitors for this tumour. Clin...
2009-01-01
Background: The early diagnosis of medullary thyroid carcinoma (MTC) is crucial for effective therapy. Elevated plasma calcitonin concentrations (pCT-Cs) are generally a specific and sensitive indicator for C-cell hyperplasia or MTC. The presence of thyroid nodules raises the possibility of MTC. Hence, in endemic goiter regions, there is a need for information regarding the pCT-C values that are indicative of C-cell hyperplasia or MTC. The aim of this study, therefore, was to determine an upper pCT-C to distinguish patients with and without MTC in a collective with nodular thyroid disease, and to give an estimation of the prevalence of MTC in an endemic goiter area. Methods: Basal pCT-C was measured in 21,928 patients with thyroid nodules living in central Germany, an area with endemic goi...
Multiple Endocrine Neoplasia Type 2: 2007 Update
2007-01-01
Abstract Background: Multiple endocrine neoplasia type 2 (MEN-2) is an autosomal dominant tumour syndrome caused by germline-activating mutations of the RET proto-oncogene. It is clinically characterised by the presence of medullary thyroid carcinoma (MTC), bilateral pheochromocytoma and primary hyperparathyroidism (MEN-2A) within a single patient. Three distinct clinical forms have been described depending on the phenotype: (1) classic MEN-2A, (2) MEN-2B, an association of MTC, pheochromocytoma and mucosal neuroma and (3) familial MTC (FMTC), which is associated with a low incidence of other endocrinopathies. Each variant of MEN-2 results from a different RET gene mutation, with a good genotype-phenotype correlation. Detection and Treatment: Genetic testing detects nearly 100% of mutation...
Determination of calcitonin Bestimmung von Kalzitonin
2005-01-01
Calcitonin in serum is a comparatively highly sensitive, specific and reliable tumor marker of central relevance for the diagnosis and follow-up of medullary thyroidal C-cell carcinoma (MTC) and neoplastic C-cell hyperplasia (CCH). It is seen considerably less often in other tumor entities. For determination we recommend immunometric two-site assays of approximately 1-2 pg/ml sensitivity. Higher MTC specificity is achieved by assays focussing on a largely selective determination of monomeric calcitonin. If this is realized, basal calcitonin levels are already greatly relevant for MTC or CCH diagnosis. The diagnostic sensitivity and specificity of calcitonin determination may be further enhanced by means of pentagastrin test, but even then false positive results are clinically relevant especially in benign CCH and renal insufficiency. In family screening in case ... >>
2008-01-01
Multiple endocrine neoplasia type 1 (MEN1) and type 2 (MEN2) are rare autosomal-dominant disorders characterized by primary tumours in at least two different endocrine tissues. Both syndromes present as sporadic (a single case with two of the characteristic endocrine tumours) or familial form (an MEN case plus at least one first-degree relative showing one of the characteristic endocrine tumours).MEN1 is characterized by the occurrence of parathyroid, gastro-entero-pancreatic and anterior pituitary tumours, but it can include various combinations of more than 20 endocrine and non-endocrine tumours. Generally, tumours in MEN1 are benign, although gastrinomas and foregut carcinoids may exhibit a malignant course.MEN2 is characterized by medullary thyroid carcinoma (MTC), uni- or bi-lateral p...
Molecular genetics and phenomics of RET mutations: Impact on prognosis of MTC
2010-01-01
Multiple endocrine neoplasia type 2 (MEN 2) is an autosomal dominant hereditary cancer syndrome caused by missense gain-of-function mutations of the RET proto-oncogene. Three distinct clinical subtypes of MEN 2 have been characterized: MEN 2A, MEN 2B, and familial medullary thyroid carcinoma (FMTC). The specific RET mutation may suggest a predilection toward a particular phenotype and clinical course, with strong genotype-phenotype correlations. Recommendations on the timing of prophylactic thyroidectomy and extent of surgery are based on classification of RET mutations into risk levels according to genotype-phenotype correlations. The excellent prognosis for MTC diagnosed at its earliest stage underscores the importance of prospective screening (calcitonin screening) for sporadic MTC and ...
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