Multiple endocrine neoplasia type 2B caused by a single point mutation in RET proto-oncoge

Multiple endocrine neoplasia type 2B caused by a single point mutation in RET proto-oncogene in a

Chinese patient

张翼飞;洪洁;赵咏桔;江凌;戴蒙;金晓龙;陈家伦;宁光

【期刊名称】《中华医学杂志（英文版）》 【年(卷),期】2004(117)008

【摘要】@@ Multiple endocrine neoplasia type 2 (MEN 2) is a hereditary syndrome which can present itself either in a familial form, characterized by a dominant pattern of inheritance, or in a sporadic form. It can be subdivided into multiple endocrine neoplasia type 2A (MEN-2A), multiple endocrine neoplasia type 2B (MEN-2B), and familial medullary thyroid carcinoma (FMTC).1-3 Among these conditions, MEN-2B, which has an extremely low rate of incidence, is the most severe form. Its clinical presentation includes C-cell hyperplasia or medullary thyroid

carcinoma,

pheochromocytoma,

ganglioneuromatosis,

accompanied with Marfanoid body habitus.4-8 Using the methods of single-strand conformational polymorphism (SSCP) and direct gene sequencing, Hofstra et al9 and Calson et al10 showed for the first time that MEN-2B is associated with a mutation in the RE arranged during transfection (RET) proto-oncogene, which is a receptor-type tyrosine kinase. The RET gene is located in the centromeric region of chromosome 10q11.2, and consists of 21 exons. Over 95% of MEN-2B