PMID: 11331212May 2, 2001Paper

Presentation of a kindred with familial medullary thyroid carcinoma and Cys611Phe mutation of the RET proto-oncogene demonstrating low grade malignancy

European Journal of Endocrinology
H SiggelkowM Hufner

Abstract

Both multiple endocrine neoplasia type 2A (MEN 2A) and familial medullary thyroid carcinoma (FMTC) are caused by germline mutations of the RET proto-oncogene. A broad spectrum of malignancy within and between families has been described with no clear genotype-phenotype correlation due to a scarcity of available data of large kindreds. Here we present the only known family with a germline mutation of codon 611 TGC to TTC (exon 10) in the RET proto-oncogene leading to a replacement of cysteine by phenylalanine (Cys611Phe or C611F). Twenty family members of this large kindred are gene carriers (GCs) and seven (5-13 years old) are potential carriers but have yet to be analysed. The clinical course of medullary thyroid carcinoma (MTC) in this family is characterized by a very slow evolution and progression of the tumour with no MTC-related death to date. Of 11 patients (30-69 years old) having undergone thyroidectomy six were classified as pT1, four as pT2 and one as C-cell hyperplasia according to the TNM system of the International Union Against Cancer. Due to cervical and mediastinal lymph node metastasis one patient (44 years old) had to be operated on a second time. The seven non-operated GCs of the fourth and fifth generation ...Continue Reading

Citations

Jul 18, 2008·Thyroid : Official Journal of the American Thyroid Association·Francesca FazioliAugusto Taccaliti
Mar 13, 2014·Thyroid : Official Journal of the American Thyroid Association·Thereasa A RichElizabeth Grubbs
Apr 25, 2007·World Journal of Surgery·Andreas Machens, Henning Dralle
Nov 21, 2008·Clinical Endocrinology·Peter IgazKároly Rácz
Dec 8, 2007·Clinical Endocrinology·Andreas Machens, Henning Dralle
Oct 28, 2010·Human Mutation·Karin Frank-RaueUNKNOWN International RET Exon 10 Consortium
May 26, 2004·Clinics in Laboratory Medicine·Nicole Massoll, Ernest L Mazzaferri
Mar 27, 2015·Thyroid : Official Journal of the American Thyroid Association·Samuel A WellsUNKNOWN American Thyroid Association Guidelines Task Force on Medullary Thyroid Carcinoma
Jun 9, 2007·Expert Review of Anticancer Therapy·Gianlorenzo DionigiLuigi Bartalena
Jan 6, 2005·Endocrine Reviews·Stephen J Marx, William F Simonds

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