Haroon Al Rasheed Mohamed Rizwan, Xu Bin
Department of Pathology, Memorial Sloan Kettering Cancer Center, 1275 York Avenue, New York, NY 10065, USA.
Department of Pathology, Memorial Sloan Kettering Cancer Center, 1275 York Avenue, New York, NY 10065, USA.
Surg Pathol Clin. 2019 Dec;12(4):921-930. doi: 10.1016/j.path.2019.08.002. Epub 2019 Sep 27.
Thyroid carcinoma is the most common cancer in the endocrine system. Recent advances, using next-generation sequencing, have shed light on the molecular pathogenesis of thyroid cancer. Constitutional activation of the mitogen-activated protein kinase pathway through RAS mutation, BRAF mutation, and/or fusions involving receptor tyrosine kinase (eg, (REarranged during Transfection) RET-PTC) plays a central role in tumorigenesis and opens doors to promising tyrosine kinase inhibitor therapy. Several molecular signatures, such as TERT promoter mutation and TP53 mutation, are associated with tumor progression. This article provides a concise and updated summary of the main genetic alterations in thyroid carcinoma.
甲状腺癌是内分泌系统中最常见的癌症。利用新一代测序技术取得的最新进展,已揭示了甲状腺癌的分子发病机制。通过RAS突变、BRAF突变和/或涉及受体酪氨酸激酶的融合(例如,转染期间重排(RET-PTC))导致的丝裂原活化蛋白激酶途径的组成性激活在肿瘤发生中起核心作用,并为有前景的酪氨酸激酶抑制剂疗法打开了大门。几种分子特征,如端粒酶逆转录酶(TERT)启动子突变和TP53突变,与肿瘤进展相关。本文对甲状腺癌的主要基因改变进行了简明且最新的总结。