2012 European Thyroid Association Guidelines for Genetic Testing and Its Clinical Consequences in Medullary Thyroid Cancer

被引:66
|
作者
Elisei, R. [1 ]
Alevizaki, M. [2 ]
Conte-Devolx, B. [3 ]
Frank-Raue, K. [4 ]
Leite, V. [5 ,6 ]
Williams, G. R. [7 ]
机构
[1] Univ Pisa, Dept Endocrinol & Metab, Pisa, Italy
[2] Univ Athens, Dept Med Therapeut, Endocrine Unit, Sch Med, Athens, Greece
[3] Aix Marseille Univ, La Timone Hosp, Dept Endocrinol, Marseille, France
[4] Mol Lab, Endocrine Practice, Heidelberg, Germany
[5] Portuguese Inst Oncol, Dept Endocrinol, Lisbon, Portugal
[6] CEDOC, Fac Med Sci, Lisbon, Portugal
[7] Imperial Coll London, Hammersmith Hosp, Dept Med, Mol Endocrinol Grp, London, England
关键词
Medullary thyroid cancer; Multiple endocrine neoplasia; RET oncogene; Gene carriers; Calcitonin;
D O I
10.1159/000346174
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
Twenty-five percent of medullary thyroid cancers (MTC) are familial and inherited as an autosomal dominant trait. Three different phenotypes can be distinguished: multiple endocrine neoplasia (MEN) types 2A and 2B, in which the MTC is associated with other endocrine neoplasias, and familial MTC (FMTC), which occurs in isolation. The discovery that germline RET oncogene activating mutations are associated with 95-98% of MEN 2/FMTC syndromes and the availability of genotyping to identify mutations in affected patients and their relatives has revolutionized the diagnostic and therapeutic strategies available for the management of these patients. All patients with MTC, both those with a positive familial history and those apparently sporadic, should be submitted to RET genetic screening. Once an RET mutation has been confirmed in an index patient, first-degree relatives should be screened rapidly to identify the 50% who inherited the mutation and are therefore at risk for development of MTC. Relatives in whom no RET mutation is identified can be reassured and discharged from further follow- up, whereas RET-positive subjects (i.e. gene carriers) must be investigated and a therapeutic strategy initiated. These guideline recommendations are derived from the most recent studies identifying phenotype-genotype correlations following the discovery of causative RET gene mutations in MEN 2 eighteen years ago. Three major points will be discussed: (a) identification of patients and relatives who should have genetic screening for RET mutations, (b) management of asymptomatic gene carriers, and (c) ethics. Copyright (C) 2012 European Thyroid Association Published by S. Karger AG, Basel
引用
收藏
页码:216 / 231
页数:16
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