a Department of Pathology , Hospital of Soochow University , Suzhou , China.
b Translational Medicine Research Institution , Geneseeq Technology Inc ., Toronto , Ontario , Canada.
Cancer Biol Ther. 2019;20(3):240-246. doi: 10.1080/15384047.2018.1523856. Epub 2018 Sep 25.
More than 90% of thyroid cancer belongs to the papillary and follicular thyroid carcinomas based on pathological subtypes. Papillary and follicular thyroid carcinoma are generally associated with a good prognosis. In contrast, other pathological subtypes such as poorly-differentiated and anaplastic thyroid carcinoma (PDTC and ATC) have a poor clinical outcome with a short life expectancy. To identify the genetic variations and biomarkers that may potentially distinguish the aggressive form of thyroid cancer, we performed a retrospective analysis of the formalin-fixed paraffin-embedded tumor samples from 50 patients who mainly displayed aggressive thyroid cancer using next-generation sequencing of 416 solid tumor-related genes. We adopted extensive bioinformatic analysis to vigorously remove germline single-nucleotide polymorphism and systematic sequencing errors, and report here that mutation in DNMT3A gene was significantly enriched in patients with PDTC or ATC.
超过 90%的甲状腺癌基于病理亚型属于乳头状和滤泡状甲状腺癌。乳头状和滤泡状甲状腺癌通常与良好的预后相关。相比之下，其他病理亚型，如低分化和间变性甲状腺癌（PDTC 和 ATC）的临床结局较差，预期寿命较短。为了确定可能区分侵袭性甲状腺癌的遗传变异和生物标志物，我们使用 416 个与实体瘤相关的基因对 50 名主要表现为侵袭性甲状腺癌的福尔马林固定石蜡包埋肿瘤样本进行了下一代测序的回顾性分析。我们采用了广泛的生物信息学分析来大力消除种系单核苷酸多态性和系统测序错误，并在此报告 DNMT3A 基因突变在 PDTC 或 ATC 患者中明显富集。
