Gene test of RET-proto-oncogene in a Chinese family of multiple endocrine neoplasia type 2

VernacularTitle:一个多发性内分泌腺瘤病2型家系的RET 基因检测
Author: Lilin GONG ; Bo TIAN ; Rong LI ; Zhihong WANG ; Zhengping FENG ; Qingfeng CHENG ; Suhua ZHANG ; Qifu LI
Publication Type:Journal Article
Keywords: Multiple endocrine neoplasia; Proto-oncogene; Gene test
From: Journal of Endocrine Surgery 2014;(6):482-485
CountryChina
Language:Chinese
Abstract: Objective To test the RET-proto-oncogene in a multiple endocrine neoplasia type 2( MEN2) family for confirming the diagnosis and classification , guiding treatment and prevention , and improving the prog-nosis.Methods There were 2 patients of MEN2 with clinical diagnosis and 1 asymptomatic first-degree relative in the pedigree .PCR and direct gene sequencing of PCR produces were used to scan the entire 21 exons of RET-proto-oncogene in the 3 members of the pedigree and 3 normal controls .Results The 2 patients and 1 asympto-matic first-degree relative in the pedigree all had a mutation of the codon 634 in exon 11.It was a heterozygous missense mutation C634R(TGC → CGC).The 3 normal controls showed no abnormalities .Conclusion The gene test of RET proto-oncogene helps to confirm the diagnosis of the pedigree as MEN 2, which can guide the treatment and help identify one asymptomatic mutation carrier .