RET oncogene mutations in 75 cases of familial medullary thyroid carcinoma in Japan

被引：14

作者：

Kameyama, K

Okinaga, H

Takami, H

机构：

[1] Keio Univ, Sch Med, Div Diagnost Pathol, Shinjuku Ku, Tokyo 1608582, Japan

[2] Univ Tokyo, Fac Med, Dept Nephrol & Endocrinol, Bunkyo Ku, Tokyo 113, Japan

[3] Teikyo Univ, Sch Med, Dept Surg, Itabashi Ku, Tokyo, Japan

来源：

BIOMEDICINE & PHARMACOTHERAPY | 2004年 / 58卷 / 6-7期

关键词：

medullary thyroid carcinoma; RET protooncogene; familial cancer;

D O I：

10.1016/j.biopha.2004.05.001

中图分类号：

R-3 [医学研究方法]; R3 [基础医学];

学科分类号：

1001 ;

摘要：

The familial form of medullary thyroid carcinoma (MTC) is caused by mutations of the RET protooncogene. We registered 60 multiple endocrine neoplasia (MEN) 2A patients, 12 familial non-MEN medullary carcinoma (FMTQ patients, and three MEN2B patients with a confirmed RET germline mutation. All 60 MEN2A patients had RET mutations in a cysteine-rich domain. Seven of the FMTC patients had a mutation in cysteine-rich domain, and the other five had a mutation in codon 768, which encodes a tyrosine-kinase domain. Two of the MEN2B patients had a mutation in codon 918, and one patient had a double mutation, one in codon 804 and the other in codon 806, both of which are all encoded tyrosine-kinase domain. The genotype-phenotype correlations of our data will allow individualized recommendations for the optimal timing of prophylactic surgery. (C) 2004 Elsevier SAS. All rights reserved.

引用

页码：345 / 347

页数：3

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