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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 mutation sites of RET proto-oncogene in a family of multiple endocrine neoplasia type 2A (MEN2A) for clinical practice. Methods DNA was extracted from the peripheral blood of MEN2A syndrome probands and their family members to detect the exon 10 and exon 11 of hotspot mutations in RET gene. Combined with the “thyroid medulla Cancer Management Guide Revised ”, the content of the relevant genetic testing. Results There was TGC → TAC mutation (CM941237) in codon 11 of exon 11, and the encoded amino acid changed from Cys (cysteine) to Tyr (tyrosine). According to the RET and other related mutations in the type of hazard classification, used to guide the choice of preventive surgery. Conclusion The early detection of MEN2A gene mutation type is of great guiding significance for the selection of prophylactic surgical treatment.