Medullary Thyroid Carcinoma: Nationwide Japanese Survey of 634 Cases in 1996 and 271 Cases in 2002

Kameyama, Kaori; Takami, Hiroshi

doi:10.1507/endocrj.51.453

Cited by 30 publications

(24 citation statements)

References 12 publications

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“…Of the 140 patients included in the present study, only 11% represented familial cases, which indicates a prevalence significantly lower than that reported by others (6,(16)(17)(18)(19). However, the present study only included patients with MTC confirmed by histology, which may have underestimated the total number of familial cases.…”

Section: Discussioncontrasting

confidence: 64%

Retrospective analysis of 140 cases of medullary thyroid carcinoma followed-up in a single institution

et al. 2016

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Abstract. Familial cases of medullary thyroid carcinoma (MTC) may be diagnosed by genetic screening, while in sporadic tumors the diagnosis relies mainly on fine-needle aspiration cytology. The aim of the present study was to determine the demographic, clinical and pathological characteristics of MTC patients followed-up at the Portuguese Institute of Oncology Francisco Gentil (Lisbon, Portugal). For that purpose, a retrospective analysis of 140 MTC patients diagnosed between 1990 and 2010 was performed. The results indicated that patients with hereditary MTC (11.4%) were significantly younger than patients with sporadic MTC. Of the latter, 34.3% had no clinical suspicion of MTC prior to surgery. The sensitivity of cytology and calcitonin (CT) assay in diagnosing MTC were 51.3 and 98.7%, respectively. All familial index cases and 69.0% of sporadic cases presented with advanced stage disease at the time of diagnosis, while 73.0% of familial MTC detected by genetic/pentagastrin screening were diagnosed at the early stage of the disease. Biochemical cure (BC) was achieved in 39.7% of patients and, of these, only 6.5% relapsed. The 5 and 10-year survival rates were 79.3 and 73.6%, respectively. Age >45 years (P=0.026), advanced stage at diagnosis (P<0.001) and absence of BC (P<0.001) were predictors of a worse prognosis on univariate analysis. However, when the patients detected by genetic/pentagastrin screening were excluded from the analysis, age was no longer a prognostic factor, although disease stage remained a significant prognostic factor. On multivariate analysis, BC was the only factor with a significant impact on prognosis (P= 0.031). In addition, the present study confirmed that the majority of patients were diagnosed at advanced stages, and CT determination was observed to be more sensitive than cytology to diagnose MTC. Patients at early stages were more prone to achieve BC, which was a favorable prognostic factor. To the best of our knowledge, the present study reports for the first time that age at diagnosis is not a predictor of survival for patients with MTC when cases diagnosed by genetic/pentagastrin screening (who are usually young patients at the initial stages of the disease), are excluded from the analysis.

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Section: Discussioncontrasting

confidence: 64%

Retrospective analysis of 140 cases of medullary thyroid carcinoma followed-up in a single institution

et al. 2016

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“…Molecular diagnosis offers a specific and highly accurate indication for prophylactic total thyroidectomy in human RET mutation carriers, which may alter MEN2 natural course of disease (15,24). In our MEN2 cases, likely due to the smallness of our sample, Val804Met RET mutation was relatively over-represented, with 3 individuals out of 35 (8.6%), compared to its less than 3% prevalence in large MEN2 series (1,15).…”

Section: Discussionmentioning

confidence: 86%

Screening of RET gene mutations in multiple endocrine neoplasia type-2 using Conformation Sensitive Gel Electrophoresis (CSGE)

Santos

Quedas

Toledo

et al. 2007

Arq Bras Endocrinol Metab

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Multiple endocrine neoplasia type 2 (MEN2) is an autosomal dominant inherited tumor syndrome caused by RET proto-oncogene germline mutations (RET). Here we tested the Conformation Sensitive Gel Electrophoresis (CSGE) as a screening method for RET hot-spot mutations. Seven MEN2 families were studied by direct sequencing analysis, CSGE and Single Strand Conformational Polymorphism (SSCP). Using CSGE/SSCP, we were able to detect four out of five types of RET mutations verified by sequencing analysis: Cys620Arg, Cys634Arg, Cys634Tyr, and Met918Thr, furthermore a missense substitution at codon 648 (Val648Ile). RET polymorphisms 691 and 769 were also verified. Data obtained using CSGE/SSCP were fully concordant. We conclude that CSGE showed to be a sensitive, fast, low-cost, and simple procedure to detect RET mutations in codons which are reported as the most prevalent RET variants (~ 95%) in large MEN2 series. As to the Val804Met mutation, this method still needs to be optimized. RESUMO Rastreamento de Mutações do Gene RET na Neoplasia Endócrina Múltipla Tipo 2 por Eletroforese em Gel Sensível à Conformação (CSGE).A neoplasia endócrina múltipla tipo 2 (NEM2) é uma síndrome tumoral herdada por mutações germinativas no proto-oncogene RET (RET). Analisamos a aplicação do método Eletroforese em Gel Sensível à Conformação (CSGE) no rastreamento de mutações hot spots do RET. Sete famílias com NEM2 foram rastreadas pelo seqüenciamento gênico, CSGE e análise do Polimorfismo Conformacional de Cadeia Simples (SSCP). Usando ambas as metodologias de rastreamento, identificamos quatro dos cinco tipos de mutações verificadas pelo seqüenciamento: Cys620Arg, Cys634Arg, Cys634Tyr e Met918Thr, além da variação gênica Val648Ile. Das análises englobando mutações hot spots do RET, 90,6% concordaram com o seqüenciamento genético (incluindo a variação gênica Val648Ile). Polimorfismos nos códons 691 e 769 foram documentados. Os dados obtidos por CSGE/SSCP foram totalmente concordantes. Concluímos que o CSGE revelou ser metodologia sensível, rápida, de fácil execução e baixo custo no rastreamento de mutações nos códons associados à grande maioria (~ 95%) dos pacientes com NEM2. (Arq Bras Endocrinol Metab

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“…Kebebew et al analyzed 58 patients with sporadic MTC, 23 patients with FMTC, 16 patients with MEN 2A, and 7 patients with MEN 2B and revealed that 38% of the patients had postsurgical persistent hypercalcitoninemia and no clinical or radiographic evidence of residual tumor, surviving for an average of 3.6 years (ranging from one month to 23.7 years) [19]. A nationwide survey on the treatment policy for MTC and well differentiated thyroid carcinoma (papillary carcinoma and follicular carcinoma) [20,21] indicated that clinicians should be prepared to offer individualized options for inherited MTC screening and risk-reducing surgery. Thus, early detection of MEN 2B may save patients, particularly from MTC.…”

Section: Discussionmentioning

confidence: 99%

De novo Multiple Endocrine Neoplasia Type 2B with Noncardiogenic Pulmonary Edema as the Presenting Symptom

et al. 2006

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Abstract. Multiple endocrine neoplasia (MEN) type 2B is a rare hereditary disorder characterized by medullary thyroid carcinoma, pheochromocytoma, and neuroma. Early signs of MEN 2B are usually neuroma, gastrointestinal problems, and medullary thyroid carcinoma. Noncardiogenic pulmonary edema is rare as a presenting symptom. We report a 31-year-old male who was admitted to our hospital because of noncardiogenic pulmonary edema. He was 168 cm in height, weighed 55 kg, and had an arm span of 166 cm. No marfanoid habitus was evident, but thickened lips and tongue neuroma were present. Chronic constipation had been present since childhood, and the patient had a two-year history of untreated hypertension. Noncardiogenic pulmonary edema and toxic megacolon were noted, and abdominal computed tomography revealed bilateral adrenal tumors. Ultrasonography of the thyroid showed two mass lesions. Intubation and mechanical ventilation were performed because of severe hypoxemia. Endocrinological examinations showed high levels of serum and urinary fractionated catecholamines, serum calcitonin, serum carcinoembryonic antigen, and serum intact parathyroid hormone. It was suggested that the high level of catecholamine from pheochromocytoma had caused the pulmonary edema. RET gene analysis showed a codon 918 mutation in exon 16 resulting in an ATG (methionine) to ACG (threonine) substitution, but analysis of the patient's parents showed the wild type. Therefore, the patient was diagnosed as having de novo MEN 2B. He underwent laparoscopic bilateral adrenectomy and total thyroidectomy. However, the values of serum calcitonin and CEA did not decrease to the normal ranges. Patients with early-stage MEN 2B have distinct characteristics that can aid early detection of the disease, thus possibly allowing them to be saved.

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Medullary Thyroid Carcinoma: Nationwide Japanese Survey of 634 Cases in 1996 and 271 Cases in 2002

Cited by 30 publications

References 12 publications

Retrospective analysis of 140 cases of medullary thyroid carcinoma followed-up in a single institution

Retrospective analysis of 140 cases of medullary thyroid carcinoma followed-up in a single institution

Screening of RET gene mutations in multiple endocrine neoplasia type-2 using Conformation Sensitive Gel Electrophoresis (CSGE)

De novo Multiple Endocrine Neoplasia Type 2B with Noncardiogenic Pulmonary Edema as the Presenting Symptom

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