Mutational profiling of poorly differentiated and anaplastic thyroid cancer by targeted next-generation sequencing
Histopathology Jun 26, 2019
Duan H, et al. - Through targeted next-generation sequencing with a panel of 18 thyroid cancer-related genes in Chinese patients, the researchers intended to identify the mutational profiles of poorly differentiated thyroid cancer (PDTC) and anaplastic thyroid cancer (ATC) and to recognize markers with potential diagnostic, prognostic and therapeutic significance. Forty-one PDTC and 25 ATC patients were recognized and assessed. Significantly higher mutation rates of BRAF, TP53, TERT and PIK3CA genes were shown by ATC in comparison to PDTC. Coexisting with a late mutation event, ATC cases with PTC components were observed carrying BRAF mutations. Further, an association of concurrent TERT and PIK3CA mutations in PDTC/ATC patients with poor overall survival post- adjustment for TNM stage was found. Hence, with a late mutation event, ATC with PTC components was typically characterized by a BRAF mutation and PDTC with PTC components had a more close correlation with RET fusion. Also, worse overall survival in PDTC/ATC was predicted by TERT and concurrent PIK3CA mutations.
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