Smith D P, Houghton C, Ponder B A
University of Cambridge, Department of Pathology, UK.
Oncogene. 1997 Sep 4;15(10):1213-7. doi: 10.1038/sj.onc.1201481.
Germline mutations in the RET proto-oncogene are seen in the majority of patients with the dominantly inherited cancer syndromes multiple endocrine neoplasia type 2 (MEN 2). The clinical subtypes of MEN 2 (MEN 2A, MEN 2B and familial MTC) all have medullary thyroid carcinoma, but vary in the involvement of pheochromocytoma, parathyroid adenoma/hyperplasia and developmental abnormalities. A single RET mutation, resulting in the substitution M918T, has been identified in 94% of cases of MEN 2B (which consists of MTC, pheochromocytoma and developmental abnormalities). Here we report the identification of a new germline RET mutation (A883F) in two de novo cases of MEN 2B. Identification of this new mutation will contribute to understanding the molecular basis of MEN 2B, and will assist in the clinical management of families harbouring this mutation.
大多数患有显性遗传性癌症综合征——2型多发性内分泌腺瘤病（MEN 2）的患者中可发现RET原癌基因的种系突变。MEN 2的临床亚型（MEN 2A、MEN 2B和家族性甲状腺髓样癌）均有甲状腺髓样癌，但在嗜铬细胞瘤、甲状旁腺腺瘤/增生和发育异常的累及情况上有所不同。在94%的MEN 2B病例（包括甲状腺髓样癌、嗜铬细胞瘤和发育异常）中已鉴定出单个导致M918T替代的RET突变。在此，我们报告在两例新发MEN 2B病例中鉴定出一种新的种系RET突变（A883F）。这一新突变的鉴定将有助于理解MEN 2B的分子基础，并将有助于对携带该突变的家族进行临床管理。
