Eng C, Mulligan L M
Dana-Farber Cancer Institute, Department of Medicine, Harvard Medical School, Boston, Massachusetts 02115-6084, USA.
Hum Mutat. 1997;9(2):97-109. doi: 10.1002/(SICI)1098-1004(1997)9:2<97::AID-HUMU1>3.0.CO;2-M.
The RET proto-oncogene codes for a receptor tyrosine kinase thought to play a role in the development of neural crest and its derivatives. Mutations in the RET proto-oncogene have been found in patients with the multiple endocrine neoplasia type 2 syndromes (MEN 2), the related sporadic tumours medullary thyroid carcinoma and pheochromocytoma, and familial and sporadic Hirschsprung disease, a syndrome of congenital absence of enteric innervation. Germline mutations in one of eight codons within RET cause the three subtypes of MEN 2, namely, MEN 2A, MEN 2B, and familial medullary thyroid carcinoma. Somatic mutation in an overlapping group of nine codons have been found in a proportion of sporadic medullary thyroid carcinoma and pheochromocytoma. In contrast to MEN 2, approximately 25% of patients with Hirschsprung disease have germline mutations scattered throughout the length of RET.
RET原癌基因编码一种受体酪氨酸激酶，被认为在神经嵴及其衍生物的发育中起作用。在2型多发性内分泌肿瘤综合征（MEN 2）患者、相关的散发性肿瘤甲状腺髓样癌和嗜铬细胞瘤以及家族性和散发性先天性巨结肠病（一种先天性肠神经支配缺失综合征）患者中发现了RET原癌基因的突变。RET内八个密码子之一的种系突变导致MEN 2的三种亚型，即MEN 2A、MEN 2B和家族性甲状腺髓样癌。在一部分散发性甲状腺髓样癌和嗜铬细胞瘤中发现了九个重叠密码子组中的体细胞突变。与MEN 2不同，约25%的先天性巨结肠病患者的种系突变分散在RET全长。
