Abstract
Diffuse sclerosing papillary thyroid carcinoma (DS-PTC) is a rare subtype of PTC with distinct clinical, histological and molecular characteristics compared to classic PTC. Due to its rarity, studies have been limited. In this study we performed comprehensive genotype-phenotype correlation on 48 resected DS-PTC. We found gene rearrangements involving RET, NTRK3, NTRK1, ALK or BRAF were present in 75% of cases, and BRAFV600E mutations were found in the remaining 25%. All paediatric cases were gene-rearranged tumours (p= 0.04).
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