Pacini F, Elisei R, Romei C, Pinchera A
Dipartimento di Endocrinologia e Metabolismo, Università di Pisa, Italy.
J Endocrinol Invest. 2000 May;23(5):328-38. doi: 10.1007/BF03343732.
Different forms of RET mutations are found in papillary and medullary thyroid carcinomas. Rearrangements with other genes (RET/PTC oncogene) play a causative role in a significant proportion of papillary thyroid carcinomas. In this case, several factors influence the frequency and the type of RET/PTC, such as exposure to radiation, age and histological variant of the papillary tumor. On the other hand, the presence of the mutation does not seem to influence the biological behavior of the tumor or its response to conventional treatment modalities. In the setting of medullary thyroid cancer, germline RET point-mutations are implicated in the pathogenesis of virtually all hereditary forms and somatic point-mutations in nearly half of the sporadic forms. The clinical impact of this finding is that family members at-risk of hereditary MTC may be screened by genetic analysis, to distinguish those carrying or not-carrying the mutation. The last can be reassured on their status and relieved from further follow-up. Those with the mutation may be treated at a pre-clinical stage of the disease or even before the disease is started. The present review is focused on the clinical implication of RET gene mutations in thyroid cancer patients.
在甲状腺乳头状癌和髓样癌中发现了不同形式的RET突变。与其他基因的重排（RET/PTC癌基因）在相当一部分甲状腺乳头状癌中起致病作用。在这种情况下，有几个因素会影响RET/PTC的频率和类型，如辐射暴露、年龄和乳头状肿瘤的组织学变异。另一方面，突变的存在似乎并不影响肿瘤的生物学行为或其对传统治疗方式的反应。在甲状腺髓样癌的情况下，胚系RET点突变几乎与所有遗传性形式的发病机制有关，在近一半的散发性形式中存在体细胞点突变。这一发现的临床意义在于，可以通过基因分析对有遗传性MTC风险的家庭成员进行筛查，以区分携带或不携带突变的人。后者可以对自己的状况放心，并免除进一步的随访。携带突变的人可以在疾病的临床前期甚至在疾病开始之前就接受治疗。本综述聚焦于RET基因突变在甲状腺癌患者中的临床意义。
