Association ofTERTPromoter Mutation 1,295,228 C>T WithBRAFV600E Mutation, Older Patient Age, and Distant Metastasis in Anaplastic Thyroid Cancer

• DOI: 10.1210/jc.2014-3606
• Publication Date: 2015-01-13T16:13:14Z
• Authors: Xiaoguang Shi; Rengyun Liu; Shen Qu; Guangwu Zhu; Justin Bishop; Xiaoli Liu; Hui Sun; Zhongyan Shan; Enhua Wang; Yahong Luo; Xianghong Yang; Jiajun Zhao; Jianling Du; Adel K. El-Naggar; Weiping Teng; Mingzhao Xing
• Keywords: Anaplastic thyroid cancer

The aggressive role of TERT promoter mutations has been well established in differentiated thyroid cancer but not anaplastic (ATC).We tested the mutation status by sequencing genomic tumor DNA and examined its relationship with clinicopathological characteristics ATC.Among 106 American Chinese ATC samples, 1,295,228 C>T (termed C228T) was found 37 (34.9%) cases, 1,295,250 four cases (3.8%), two were mutually exclusive collectively 41 (38.7%). C228T occurred 28 90 (31.1%) wild-type BRAF vs nine 16 (56.3%) V600E an odds ratio 2.85 (95% confidence interval, 0.96-8.42; P = .05). Patient age 67.6 ± 13.6 61.6 11.4 years patients (P .02), demonstrating association between older patient age. This also seen within cohort. In this cohort, which had more available data, associated distant metastasis tumor; specifically, 15 18 (83.3%) eight 26 (30.8%) patients, 11.25 2.53-50.08; .001). No sex, size, lymph node metastasis, extrathyroidal invasion ATC.This is largest study on ATC, V600E, age, ATC.