一MEN2A家系的遗传学分析及ATA2015年MTC管理指南基因检测解读

Genetic analysis in a family with multiple endocrine neoplasia type 2A syndrome and reading of gene mutation to 2015 revised American thyroid association guidelines for the management of medullary thyroid carcinoma

目的研究一多发性内分泌腺瘤病2A型(MEN2A)家系RET原癌基因突变位点,用于指导临床实践。方法对MEN2A综合征先证者及其家系成员的外周血提取DNA,对RET基因热点突变的第10、11外显子进行检测,并结合2015年美国甲状腺协会(ATA)发布的《甲状腺髓样癌管理指南修订版》,对相关基因检测内容进行解读。结果第11外显子634密码子存在TGC→TAC突变(CM941237),编码的氨基酸由Cys(半胱氨酸)变为Tyr(酪氨酸)。可根据RET等相关基因的突变类型区分危险等级,用于指导预防性外科治疗的选择。结论 MEN2A综合征基因突变类型的早期检测对预防性外科治疗的选择具有重大指导意义。

Objective To study the RET proto-oncogene mutation in a pedigree of multiple endocrine neoplasia type 2A syndrome in order to guide the clinical practice. Methods The peripheral blood of the prohand and other family members with multiple endocrine neoplasia type 2A syndrome was collected, and DNA was prepared for gene sequencing to detect the exons 10, 11 of RET proto-oncogene to find out the mutation. Gene sequencing was read according to the 2015 Revised American Thyroid Association guidelines for the management of medullary thyroid carcinoma. Results A missense mutation of TGC(Cys) to TAC(Tyr) at codon 634 in exon 11 of the RET proto-oncogene was detected. Risk was evaluated according to different type of the RET proto-oncogene mutation, finally to give guidance for the surgical choice in preventive treatment. Conclusions The early detection of the multiple endocrine neoplasia type 2A syndrome which can make sure the mutation type is significant in the surgical choice in preventive treatment