Searchable abstracts of presentations at key conferences in endocrinology

ea0084op-03-16 | Oral Session 3: Advanced Thyroid Cancer | ETA2022

A clinical and molecular study of a real-world cohort of braf v600e anaplastic thyroid carcinoma treated with dabrafenib and trametinib

Nunes da Silva Tiago , Rodrigues Ricardo , Rito Miguel , Saramago Ana , Pires Carolina , Horta Mariana , Leite Valeriano , Cavaco Branca

Introduction and objectives: Anaplastic thyroid cancer (ATC) has a very low overall survival (OS) and progression free survival (PFS) due to fast growth and resistance to non-target therapies. A recent phase II study showed a dramatic increase in OS and PFS of BRAF V600E mutated ATC patients treated with Dabrafenib and Trametinib (DT). However as commonly reported in melanoma durable responses in ATC may be compromised by resistance mechanisms. Until now only a few ca...

ea0092ps3-30-08 | Thyroid Physiology in Periphery & Development Basic | ETA2023

Identification of FOXE1 promoter variants in families with cleft palate, struma ovarii and thyroid lesions

Pires Carolina , Saramago Ana , M. Moura Margarida , Li Jing , Marques Ines , Cabrera Rafael , Machado Ana , Grunewald Thomas , Leite Valeriano , Cavaco Branca

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...