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目的总结2个多发性内分泌腺瘤2A型(MEN2A)家系的临床特征及RET基因的突变类型。方法分析2例MEN2A先证者及其家系成员的临床表现;提取其外周血基因组DNA,应用PCR技术对RET基因的第10、11外显子进行扩增并双向测序。结果 2个家系的先证者及5名家庭成员均存在RET基因第11外显子的Cys634Arg点突变,且临床均表现为甲状腺髓样癌和嗜铬细胞瘤。其中,家系2合并有垂体无功能腺瘤。结论该MEN2A家系的RET基因是Cys634Arg突变;其临床表现主要为甲状腺髓样癌及肾上腺嗜铬细胞瘤。
Objective To summarize the clinical features of two families of multiple endocrine neoplasia type 2A (MEN2A) and the types of mutations in the RET gene. Methods The clinical manifestations of two MEN2A probands and their pedigrees were analyzed. The genomic DNA of peripheral blood was extracted. The 10 and 11 exons of RET gene were amplified by PCR and sequenced. Results The Cys634Arg point mutation of exon 11 of RET gene existed in both family members and five family members, and both of them showed medullary thyroid carcinoma and pheochromocytoma. Which, family 2 merged with pituitary non-functional adenoma. Conclusion The RET gene of the MEN2A pedigree is a mutation of Cys634Arg. The clinical manifestations are mainly medullary thyroid carcinoma and adrenal pheochromocytoma.