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

Histopathology Oct 20, 2019

Duan H, Li Y, Hu P, et al. - On tissue samples from 41 individuals with poorly differentiated thyroid carcinoma (PDTC) and 25 anaplastic thyroid carcinoma (ATC), targeted next-generation sequencing with a panel of 18 thyroid carcinoma-ATC and to recognize markers with possible diagnostic, prognostic and therapeutic importance. ATC vs PDTC had significantly greater mutation rates of BRAF, TP53, TERT and PIK3CA. ATC cases with papillary thyroid carcinoma (PTC) parts nurtured BRAF mutations and all of them coexisted with a late mutation event ( TP53, TERT, or PIK3CA). Nine cases with oncogenic fusion (ie, six RET cases, one NTRK1 case, one ALK case, and one PPARG case) were recognized in 41 PDTCs, while among 25 ATCs, just one case with oncogenic fusion (NTRK1) was discovered. Furthermore, accounting for 33%, all six cases of RET fusion were seen in components of PDTC with PTC. In individuals PDTC/ATC, following adjustment for TNM stage, concurrent TERT and PIK3CA mutations were related to poor overall survival. Hence, ATC with PTC components was typically identified by a BRAF mutation with a late mutation incident, whereas PDTC with PTC components was more closely associated with RET fusion. Further, in patients with PDTC/ATC, TERT and concurrent PIK3CA mutations prognosticate worse overall survival.
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