DICER1 Mutations Occur in More Than One-Third of Follicular-Patterned Pediatric Papillary Thyroid Carcinomas and Correlate with a Low-Risk Disease and Female Gender Predilection

AbstractSome pediatric papillary thyroid carcinoma (PPTC) cohorts have suggested a preliminary correlation with respect toDICER1 mutation status and histomorphology in both benign and malignant follicular cell –derived nodules; however, the data regarding correlates ofDICER1-related sporadic PPTCs subtyped based on the 2022 WHO classification criteria are largely unavailable. The current study investigated the status of hotspotDICER1 mutations with clinical, histological and outcome features in a series of 56 patients with PPTCs with no clinical or family history of DICER1-related syndromic manifestation. Fifteen (27%) PPTCs harboredBRAF p.V600E. Eight (14%) cases of  PPTCs harboredDICER1 mutations with no associatedBRAF p.V600E.DICER1 mutations were identified in exons 26 and 27. A novel D1810del (c.5428_5430delGAT) mutation was also detected. We also confirmed the absence of hotspotDICER1 mutations in the matched non-tumor tissue DNA in all 8DICER1-related PPTCs. The mean age ofDICER1-harboring PPTCs was 15.1 (range: 9 –18) years whereas the rest of this cohort had a mean age of 14.8 (range 6–18) years. With the exception of one PPTC, allDICER1-related PPTCs were seen in females (female-to-male ratio: 7). The female to male ratio was 3.8 in 48DICER1-wild type PPTCs. In terms of histological correlates, 5 of 8 (63%)DICER1-mutant PPTCs were invasive encapsulated follicular variant papillary thyroid carcinomas (FVPTCs) including 4 minimally invasive FVPTCs and 1 encapsu...
Source: Endocrine Pathology - Category: Pathology Source Type: research