A NOVEL Ser73Gly VARIATION OF SUCCINATE DEHYDROGENASE,SUBUNIT D AND A Cys634Gly MUTATION IN Ret PROTO-ONCOGENE OBSERVED IN A CHINESE MULTIPLE ENDOCRINE NEOPLASIA TYPE 2A PATIENT  

作　　者：王卫庆 郑旭磊 崔斌 蒋怡然 苏颋为 周薇薇 宁光 

机构地区：[1]Shanghai Clinical Center for Endocrine and Metabolic Diseases,Shanghai Institute of Endocrine and Metabolic Diseases,Ruijin Hospital,School of Medicine,Shanghai Jiaotong University

出　　处：《Medical Bulletin of Shanghai Jiaotong University》2010年第1期1-5,共5页上海交通大学学报（医学英文版）

基　　金：Supported by National Nature Science Foundation of China(30771018);Shanghai Rising-Star Program,China(08QA14057)

摘　　要：Multiple endocrine neoplasia type 2A （ MEN2A ） is an autosomal dominant cancer syndrome that is characterized by medullary thyroid carcinoma （MTC）, pheochromaocytoma （50% - 60% of cases ）, and hyperplasia of the parathyroid glands （ 20% - 30% of cases ）. MEN-2A comprises a heterogeneous group of neoplastic disorders that most commonly have a single missense substitution of the Ret proto-oncogene （RET） involving exons 10 and 11. Here, we reported a novel case of MEN2A associated with two variations in two distinct genes, Cys634Gly in RET and a rare Ser73Gly substitution in succinate dehydrogenase, subunit D （SDHD）. Because the patient presented with medullary thyroid carcinoma and pheochromocytoma but without parathyroid gland involvement, we speculated that this clinical feature could be correlated with the two substitutions. This is the first report of a MEN2A case involving two different changes one in the RET gene and the other in the SDHD gene.Multiple endocrine neoplasia type 2A(MEN2A)is an autosomal dominant cancer syndrome that is characterized by medullary thyroid carcinoma(MTC),pheochromocytoma(50%-60% of cases),and hyperplasia of the parathyroid glands(20%-30% of cases).MEN2A comprises a heterogeneous group of neoplastic disorders that most commonly have a single missense substitution of the Ret proto-oncogene(RET)involving exons 10 and 11.Here,we reported a novel case of MEN2A associated with two variations in two distinct genes,Cys634Gly in RET and a rare Ser73Gly substitution in succinate dehydrogenase,subunit D(SDHD).Because the patient presented with medullary thyroid carcinoma and pheochromocytoma but without parathyroid gland involvement,we speculated that this clinical feature could be correlated with the two substitutions.This is the first report of a MEN2A case involving two different changes one in the RET gene and the other in the SDHD gene.

关 键 词：multiple endocrine neoplasia type 2A Ret proto-oncogene succinate dehydrogenase subunit D mutation 

分 类 号：Q554.9[生物学—生物化学] Q255