原癌基因RET与MEN2、MTC研究进展

RET oncogene in MEN2,MEN2B and MTC

RET基因突变为遗传性甲状腺髓样癌、Ⅱ型多发性内分泌肿瘤的致癌基因。基因型与临床表型之间的关系研究颇多。以RET基因作为治疗靶点设计的分子制剂成为临床治疗该类基因突变所致肿瘤性疾病的策略。综述RET基因型检测用于临床表型、特点的预测及对处理方式的指导,包括预防性手术、基因治疗、分子靶向药物应用的进展。

Hereditary medullary thyroid carcinoma （MTC） is caused by specific autosomal dominant gain - of func- tion mutations in the RET proto - oneogene. Genotype - phenotype correlations exist that help predict the presence of other associated endocrine neoplasms as well as the timing of thyroid cancer development. MTC represents a promising model for targeted cancer therapy, as the oncogenic event responsible for initiating malignancy has been well characterized. The RET proto - oncogene has become the rational target for molecularly designed drug therapy. Tyrosine kinase inhibitors tar- geting activated RET are currently in clinical trials fi）r the treatment of patients with MTC. This review will provide a brief overview of MTC and the associated RET oneogenie mutations, as well as a summary of the therapies designed to strategically interfere with pathologic activation of the RET oncogene.