Mutational profiling of poorly differentiated and anaplastic thyroid carcinoma by the use of targeted next‐generation sequencing

• DOI: 10.1111/his.13942
• Publication Date: 2019-06-23T10:28:33Z
• Authors: Huanli Duan; Yan Li; Peizhen Hu; Jie Gao; Jianming Ying; Wanni Xu; Danhui Zhao; Zhe Wang; Junyi Ye; Analyn Lizaso; Yangzhige He; Huanwen Wu; Zhiyong Liang
• Keywords: PAX8

Aims To characterise the mutational profiles of poorly differentiated thyroid carcinoma (PDTC) and anaplastic (ATC) to identify markers with potential diagnostic, prognostic therapeutic significance. Methods results Targeted next‐generation sequencing a panel 18 carcinoma‐related genes was performed on tissue samples from 41 PDTC 25 ATC patients. Genetic alterations their correlations clinicopathological factors, including survival outcomes, were also analysed. Our showed that had significantly higher mutation rates BRAF , TP53 TERT PIK3CA than ( P = 0.005, 0.007, 0.033, respectively). Nine (69%) cases papillary (PTC) components harboured mutations, all which coexisted late event or ). oncogenic fusion (six RET cases, one NTRK1 case, ALK PPARG case) identified in PDTCs, whereas only case ) found among ATCs. Moreover, six PTC components, accounting for 33%. In PDTC/ATC patients, concurrent mutations associated poor overall after adjustment TNM stage 0.001). Conclusions is typically characterised by event, more closely correlated fusion. predict worse