Endocrinology Unit, University of Padua, Padua, Italy.
Fam Cancer. 2009;8(4):379-82. doi: 10.1007/s10689-009-9250-z. Epub 2009 May 28.
RET codon 609 point mutations are rare and may predispose to aggressive medullary thyroid carcinoma (MTC). In a kindred with 15 carriers of the Cys609Ser RET mutation we observed no MTC before 17 years of age, no lymph node metastases before 30 years and no distant metastases before 60 years. Two patients developed pheochromocytoma and one had primary hyperparathyroidism as the first sign of the syndrome. In conclusion, at variance from what already known, in this large kindred the Cys609Ser RET mutation predispose to a scarcely aggressive, highly penetrant MTC and a low penetrance of pheochromocytoma and primary hyperparathyroidism.
RET 密码子 609 点突变罕见，可能导致侵袭性甲状腺髓样癌（MTC）。在一个家族中有 15 名 Cys609Ser RET 突变携带者，我们观察到 17 岁前没有 MTC，30 岁前没有淋巴结转移，60 岁前没有远处转移。两名患者发生嗜铬细胞瘤，一名患者发生甲状旁腺功能亢进症，为该综合征的首发表现。总之，与已知情况不同，在这个大家族中，Cys609Ser RET 突变导致侵袭性低、高外显率的 MTC 和低外显率的嗜铬细胞瘤和甲状旁腺功能亢进症。
