Searchable abstracts of presentations at key conferences in endocrinology

ea0049gp23 | Adrenal 3 | ECE2017

Clinical features and treatment outcomes in a group of SDHx-related pheochromocytoma/paraganglioma patients

Simoes Helder , Antunes Pedro , Pinto Ana , Donato Sara , Leite Valeriano , Cavaco Branca

Introduction: Germline mutations in succinate dehydrogenase complex (SDHx) are a risk factor for developing Pheochromocytoma (Pheo) and/or Paragangliomas (PGL) (named together PPGL), being responsible for approximately 30% of cases. The precise genotype-phenotype correlations and best management strategies are still uncertain.Objective: To characterize the clinical features and genotype-phenotype associations in a group of SDHx-mutated PPGL patients....

ea0049gp126 | Endocrine Tumours | ECE2017

Inhibition of hRAS and CDK4/6 leads to an antiproliferative activity, blocks cell cycle and induces cell death in anaplastic thyroid cancer cell lines

Pojo Marta , Lopes-Ventura Sara , Matias Ana , Leite Valeriano , Cavaco Branca

The unresponsiveness of anaplastic thyroid carcinomas (ATCs) to multimodal therapy represents the major challenge in thyroid cancer treatment. Our group previously showed that genes involved in cell cycle are differentially expressed in ATCs compared to normal thyroid, and that the most common mutations found in these tumours are related with proliferation and cell cycle genes, namely TP53, RAS, CDKN2A and CDKN2B. Therefore, these genes are ...

ea0040p14 | (1) | ESEBEC2016

A novel germline mutation of the MEN 1 gene associated with multiple endocrine neoplasia type 1 (MEN1 syndrome) followed over three generations of a family

Anselmo Joao , Sousa Isabel , Cavaco Branca , Cesar Valeriano Leite e Rui

Background: Germline heterozygous mutations in the MEN1 gene located on chromosome 11q13, predisposes to the development of tumors in multiple endocrine tissues. The MEN1 gene encodes a protein of 610 amino acid residues, known as menin which is involved in genome stabilization as well as in several steps of cellular division, conferring tumor suppression activity in MEN1-associated target tissues. The three main endocrine tissues affected by tumors in MEN1 are parathyroid (95...

ea0037ep1297 | Clinical Cases–Thyroid/Other | ECE2015

Familial hypocalciuric hypercalcaemia: case report

Neves Ana Carolina , Rego Teresa , Cavaco Branca , Fonseca Fernando , Agapito Ana

Introduction: Familial hypocalciuric hypercalcaemia (FHH) is a rare genetically heterogeneous disorder, with 3 variants described. An inactivating mutation in the calcium sensor receptor (CASR) gene causes the subtype 1, which represents 65% of the cases.It is charaterised by hypercalcaemia and hypocalciuria with normal or elevated PTH. FHH is generally assymptomatic and treatment is not needed. Differential diagnosis with primary hyperparathyroidism (PH...

ea0092ps3-29-04 | Treatment 2 | ETA2023

Effectiveness of lenvatinib in progressive metastatic radioiodine refractory well differentiated and poorly differentiated thyroid carcinoma

Nunes da Silva Tiago , Regala Catarina , Rodrigues Ricardo , Roque Joao , Damasio Ines , Cavaco Branca , Leite Valeriano

Introduction and objectives: Lenvatinib is the first line treatment for advanced radioiodine refractory (RAIR) differentiated thyroid carcinoma (DTC). Poorly differentiated thyroid carcinoma (PDTC) outcomes with Lenvatinib have only been subjected to sub analysis in one PHASE III study (SELECT), which might limit its real-world use in PDTC. We intend to compare the effectiveness of Lenvatinib in metastatic RAIR DTC and PDTC patients.Methods: Retrospectiv...

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...

ea0084op-07-34 | Oral Session 7: Thyroid Cancer Basic | ETA2022

CDK4 phosphorylation status and rational use of CDK4/6 inhibitors in advanced thyroid cancers

Pita Jaime M , Coulonval Katia , Costante Giuseppe , Myriam Decaussin , Emmanuelle Leteurtre , Cavaco Branca , A Copland John , Durante Cosimo , Maenhaut Carine , Dumont Jacques , Roger Pierre , Raspe Eric

Introduction and objectives: The cyclin-dependent kinases CDK4 and CDK6 are key regulators of the cell cycle entry, by phosphorylating the onco-suppressor retinoblastoma protein (pRb). CDK4/6 inhibitors (CDK4i) are already established as standard first-line treatment against advanced Estrogen Receptor-positive breast tumors, and have emerged as novel drugs to treat various pRb-proficient chemotherapy-resistant cancers. Presence of activating T172-phosphorylation of CDK4 in bre...

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...

ea0035p1149 | Thyroid Cancer | ECE2014

Prognostic significance of TERT promoter mutations in follicular cell-derived thyroid carcinomas

Melo Miguel , da Rocha Adriana Gaspar , Vinagre Joao , Batista Rui , Peixoto Joana , Celestino Ricardo , Salgado Catarina , Eloy Catarina , Lima Jorge , Amaro Teresina , Lobo Claudia , Moura Margarida , Cavaco Branca , Leite Valeriano , Cameselle-Teijeiro Jose Manuel , Carrilho Francisco , Carvalheiro Manuela , Maximo Valdemar , Sobrinho-Simoes Manuel , Soares Paula

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"...