甲状腺癌分子病理研究新进展

Recent Progress in Molecular Pathology of Thyroid Carcinoma

目前,国内外甲状腺癌发病率上涨迅速,尤其在女性人群中。我国数据显示,甲状腺癌已跃居恶性肿瘤发病增长率榜首。由此,有关甲状腺结节良恶性判断、甲状腺癌准确分型及预后判断等一系列为患者得到精准诊治而产生的病理挑战也得以产生。探究甲状腺癌病因学及靶向治疗异常分子的研究一直以来都受到广泛关注。现在越来越多的甲状腺癌相关分子遗传学改变被发现和研究,分子病理也将越来越广泛地应用于甲状腺癌的诊疗过程中。本综述分别从经典的分子标记物如BRAF突变、TERT突变、RAS突变、RET突变、PAX8-PPAR基因融合及PI3K-Akt通路过度激活和较为新型的分子标记物如NTRK基因融合、CXCR4型与CXCR7型异常表达、FOXA1基因过表达及STRN-ALK基因融合两方面展开,阐述以上分子的变异特点,并探讨其临床意义。

Nowadays,the incidence of thyroid carcinoma is soaring,especially among women,at mainland and abroad.It has become the most rapidly increasing malignant tumor according to data in China. This leads to a series of pathological challenges in accurate diagnosis and treatment of thyroid carcinoma,including prognosis,the determination of benign and malignant thyroid nodules,and accurate classification of thyroid carcinoma. The study on thyroid carcinoma etiology and targeted treatment of abnormal molecules has been paid much attention. Now,more and more thyroid carcinoma-related molecular genetic changes have been discovered and studied,and molecular pathology will be more and more widely used in the diagnosis and treatment of thyroid carcinoma. This review focuses on the classic molecular markers such as BRAF mutation,TERT mutation,RAS mutation,RET mutation,PAX8-PPARγ gene fusion and excessive activation of the PI3K-Akt pathway and new molecular markers such as NTRK gene fusion,CXCR4 and CXCR7 abnormal expression,FOXA1 gene excessive expression and STRN-ALK gene fusion. This review describes the above molecular variation characteristics and discusses its clinical significance.