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(Familial medullary thyroid carcinoma FMTC )
168 results
  • GeneReviews®: Multiple Endocrine Neoplasia Type 2 [BOOK]
    GeneReviews®. University of Washington, Seattle: Seattle (WA)Adam MP, Ardinger HH, … Amemiya AEng CBOOK
  • Multiple endocrine neoplasia type 2 (MEN 2) includes the following phenotypes: MEN 2A, FMTC (familial medullary thyroid carcinoma, which may be a variant of MEN 2A), and MEN 2B. All three phenotypes involve high risk for development of medullary carcinoma of the thyroid (MTC); MEN 2A and MEN 2B involve an increased risk for pheochromocytoma; MEN 2A involves an increased risk for parathyroid adeno…
  • Clinical utility of genetic diagnosis for sporadic and hereditary medullary thyroid carcinoma. [Journal Article]
    Ann Endocrinol (Paris). 2019 Jun; 80(3):187-190.Elisei R, Bottici V, … Romei C
  • Medullary thyroid cancer (MTC) is a rare thyroid tumor whose prevalence is 3-5% among all thyroid tumors. The pathogenesis of MTC is mainly related to germline or somatic RET activating point mutations that are causative of hereditary and sporadic cases, respectively. Hereditary MTC can occur as multiple endocrine neoplasia type 2A (MEN 2A), type 2B (MEN 2B) and familial MTC (FMTC) that differ fo…
  • [Familial medullary thyroid carcinoma: case report and literature review.] [Case Reports]
    Rev Fac Cien Med Univ Nac Cordoba. 2018 12 12; 75(4):303-309.Barletta Carrillo CF, Poterico Rojas JA, … Castro Mujica MDC
  • Medullary thyroid carcinoma (MTC) is a malignant tumour of the calcitonin-secreting parafollicular C cells of the thyroid gland. Up to 25% of MTC are associated to pathogenic germinal variants on the proto-oncogene RET (locus 10q11.2), which cause Familial Medullary Thyroid Carcinoma (FMTC) or Multiple Endocrine Neoplasia type 2 (MEN2); genetic conditions inherited with autosomal dominant pattern…
  • Surgical Management of Medullary Thyroid Carcinoma in Pediatric Age. [Journal Article]
    Curr Pediatr Rev. 2016; 12(4):280-285.Spinelli C, Strambi S, … Massimino M
  • Medullary thyroid carcinoma (MTC) is a rare, accounting for 5% of thyroid malignancies. It is a neuroendocrine tumor wich origins from thyroid parafollicular cells. It may be sporadic, mostly in adult patients, or inherited as autosomal dominant pattern, mostly in pediatric patients. As familial cancer, MTC may presented isolated as familial medullary thyroid carcinoma (FMTC) - 10% of cases - or,…
  • Medullary thyroid carcinoma: a review on ethical considerations in treatment of children. [Review]
    J Pediatr Endocrinol Metab. 2016 Jun 01; 29(6):633-9.Nozhat Z, Hedayati M
  • Thyroid carcinoma is the most common malignancy of the endocrine system and it accounts approximately 1%-3% of all human cancers. Among the three subtypes of thyroid cancers, medullary thyroid carcinoma (MTC) is the most common cause of death in patients with multiple endocrine neoplasia (MEN) type 2A (MEN2A), MEN type 2B (MEN2B) and familial medullary thyroid carcinoma (FMTC). Generally, MTC acc…
  • Hereditary Medullary Thyroid Cancer Genotype-Phenotype Correlation. [Review]
    Recent Results Cancer Res. 2015; 204:139-56.Frank-Raue K, Raue F
  • During the last two decades, there has been a marked expansion of our knowledge of both the basic and clinical aspects of multiple endocrine neoplasia type 2 (MEN2). There are two clinically distinct types of MEN2 syndrome, termed MEN2A and MEN2B. Within MEN2A, there are four variants: (i) classical MEN2A, represented by the uniform presence of MTC and the less frequent occurrence of pheochromocy…
  • [A Case of Hereditary Medullary Thyroid Cancer (MEN2A/FMTC) Diagnosed at the Time of Recurrence]. [Case Reports]
    Nihon Jibiinkoka Gakkai Kaiho. 2015 Mar; 118(3):219-23.Enomoto K, Shimizu K, … Uno A
  • We report a 42-year-old man with hereditary medullary thyroid cancer (multiple endocrine neoplasia, MEN2A/familial medullary thyroid carcinoma, FMTC), which was diagnosed at the time of tumor recurrence. He had a past history of a left thyroidectomy with neck dissection 7 years previously. A RET gene analysis revealed a point mutation (codon 618), and we diagnosed him as having hereditary medulla…
  • mTOR activation in medullary thyroid carcinoma with RAS mutation. [Journal Article]
    Eur J Endocrinol. 2014 Nov; 171(5):633-40.Lyra J, Vinagre J, … Soares P
  • CONCLUSIONS: We confirmed the presence of RAS mutation in 14.3% of sporadic MTCs and report, for the first time, an association between such mutations and the activation of the mTOR pathway. The evaluation of the mTOR activation by pS6 expression may serve as an indicator of invasive MTC.
  • An extended family with familial medullary thyroid carcinoma and Hirschsprung's disease. [Journal Article]
    J Nippon Med Sch. 2014; 81(2):64-9.Igarashi T, Okamura R, … Shimizu K
  • Familial medullary thyroid carcinoma (FMTC) is an autosomal dominant inherited disease that has highly characteristic clinical features, including medullary thyroid carcinoma (MTC). Mutation of the RET proto-oncogene is known to be responsible for development of FMTC and for multiple endocrine neoplasia types 2A and 2B. Hirschsprung's disease is the most common form of structural intestinal obstr…
  • Current understanding and management of medullary thyroid cancer. [Review]
    Oncologist. 2013; 18(10):1093-100.Roy M, Chen H, Sippel RS
  • Medullary thyroid cancer (MTC) typically accounts for 3%-4% of all thyroid cancers. Although the majority of MTCs are sporadic, 20% of cases are hereditary. Hereditary MTC can be found in multiple endocrine neoplasia 2A or 2B or as part of familial MTC based on a specific germline mutation in the RET proto-oncogene. This article discusses the current approaches available for the diagnosis, evalua…
  • Multiple endocrine neoplasia type 2 and familial medullary thyroid carcinoma: an update. [Review]
    J Clin Endocrinol Metab. 2013 Aug; 98(8):3149-64.Wells SA, Pacini F, … Santoro M
  • CONCLUSIONS: The effective management of patients with MEN2A, MEN2A, and FMTC depends on an understanding of the variable behavior of disease expression in patients with a specific RET mutation. Information gained from molecular testing, biochemical analysis, and clinical evaluation is important in providing effective management of patients with either early or advanced-stage MTC.
  • Genetic analysis of a Chinese Han family with multiple endocrine neoplasia type 2A. [Case Reports]
    Indian J Biochem Biophys. 2013 Feb; 50(1):26-31.Guo Y, Xu H, … Deng H
  • Multiple endocrine neoplasia type 2 (MEN2) is an autosomal dominant disorder that can be distinguished as three different syndromes: multiple endocrine neoplasia type 2A (MEN2A), MEN2B and familial medullary thyroid carcinoma (FMTC). This disorder is usually caused by the mutations of the rearranged during transfection protooncogene gene (RET) or the neurotrophic tyrosine kinase receptor type 1 g…
  • RET gene mutations and polymorphisms in medullary thyroid carcinomas in Indian patients. [Journal Article]
    J Biosci. 2011 Sep; 36(4):603-11.Sharma BP, Saranath D
  • Germline mutations of RET gene are pathognomonic of multiple endocrine neoplasia (MEN; MEN 2A/MEN 2B) and familial medullary thyroid carcinoma (FMTC), constituting 25% of medullary thyroid carcinomas (MTCs). We investigated RET gene mutations and polymorphisms at exons 10, 11, 13, 14, 15 and 16 in 140 samples, comprising 51 clinically diagnosed MTC patients, 39 family members of patients and 50 n…
  • Familial thyroid cancer: a review. [Review]
    Mod Pathol. 2011 Apr; 24 Suppl 2:S19-33.Nosé V
  • Thyroid carcinomas can be sporadic or familial. Familial syndromes are classified into familial medullary thyroid carcinoma (FMTC), derived from calcitonin-producing C cells, and familial non-medullary thyroid carcinoma, derived from follicular cells. The familial form of medullary thyroid carcinoma (MTC) is usually a component of multiple endocrine neoplasia (MEN) IIA or IIB, or presents as pure…
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