Endocrine Abstracts

Introduction: Forkhead box E1 (FOXE1) gene encodes a transcription factor crucial for thyroid morphogenesis, differentiation, and function. We previously found evidence of the involvement of a rare germline FOXE1 variant in familial non-medullary thyroid carcinoma (FNMTC) etiology. FNMTC most common subtype is papillary thyroid carcinoma (PTC), and family members frequently present thyroid follicular nodular disease (FND). Germline FOXE1 mu...

Introduction: Paediatric thyroid cancer (TC) is characterised by higher aggressiveness and recurrence rates compared to adult TC. The risk stratification system for paediatric TC is simplified relative to that of adults. Paediatric tumours mostly harbour gene fusions, while adult TC frequently present oncogenic point mutations. Yet, 40-50% of genomic alterations driving tumourigenesis and conferring aggressiveness to radiation-unrelated paediatric papillary TC (PTC) remain unk...

Context: Telomerase promoter mutations (TERT) were recently described in follicular cell-derived thyroid carcinomas (FCDTC) and seem to be more prevalent in aggressive cancers.Objectives: We aimed to evaluate the frequency of TERT promoter mutations in thyroid lesions and to investigate the prognostic significance of such mutations in a large cohort of patients with differentiated thyroid carcinomas (DTC).<p class="abstext"...