Endocrine Abstracts

Objectives: Distant metastases in MTC adversely affect disease prognosis. Somatic mutations in spMTC as well as Variant Allele Frequency (VAF) have been related to tumor burden, disease course and the response to TKIs. The aim of this study is to report three cases of nucleotide (nt) insertions/deletions (indels) in the RET oncogene in relation to disease course/response to TKIs.Methods: Of 195 spMTC patients followed-up in Dept. Clinical Therap...

Background: Human cancer is characterized by the accumulation of somatic alterations including base substitutions, indels, structural rearrangements and somatic copy number alteration (CNA), either gain or loss, of chromosomes that can be responsible either for initiation and/or cancer progression. About 80% of Sporadic Medullary Thyroid Carcinoma (sMTC) harbor RET or RAS somatic alterations with a negative prognostic role for the presence of the RET mutation; a few s...

Introduction: Maternal obesity is associated with an increased risk of gestational diabetes, large for gestational age (LGA) newborns, preterm delivery, congenital malformations, and fetal death. On the other hand, bariatric surgery before pregnancy is associated with a reduction of obesity-associated complications, but also with an increased risk of small for gestational age (SGA) newborns, fetal growth restriction and micronutrient deficiencies during pregnancy.<p class=...

Introduction: Some studies suggest a possible link between autoimmune thyroid disease (AITD) and thyroid cancer (TC). However, existing data is inconsistent, and no consensus exists regarding this question.Objective: The aim of this study was to analyze the association between TC and AITD, namely Hashimoto’s thyroiditis (HT) and Graves’ disease (GD).Methods: We conducted a retrospective and observational study of all pati...

Introduction: Primary bilateral macronodular adrenal hyperplasia (PBMAH) is a rare entity. Up to 1/3 of patients with incidental bilateral adrenal nodules presents biochemical evidence of hypercortisolism responsible for obesity, diabetes mellitus (DM), arterial hypertension or dyslipidemia. Its insidious course and nonspecific signs explain the underdiagnosis of this entity.Objective: To describe the case of a patient with metabolic syndrome (MS) with h...

Introduction: : Adrenocortical carcinoma (ACC) is a rare tumor, often with an unfavorable prognosis. The management of ACC is challenging due to its low frequency and limited experience. The objective of this study was to describe the adverse events (AE) in patients diagnosed with ACC treated in the Divisions of Endocrinology and Oncology at the Ramón y Cajal University Hospital (Madrid, Spain) in the last seven years.Methods: Records of patients wi...

Introduction: Broncho-Pulmonary Neoplasms (BP-NENs) are rare neoplasms arising from neuroendocrine cells of the respiratory epithelium. Since previous studies in our lab have demonstrated the efficacy ofEverolimus, approved for BP-NENs treatment, and Dinaciclib, a Cyclins and CdKs inhibitor, on monolayer system we have investigated if a more complex tumour system could generate a change in drugs effects and cell resistance. Therefore, through the use of 3D culture model, we ha...

Background: Pancreatic Neuroendocrine Neoplasms (pNENs) are malignancies arising from the endocrine pancreas. Past in vitro studies have led to a better comprehension and characterization of this malignancy under several points of view. However, effective medical therapies are still not available, therefore, it is essential to continue studying this malignancy in order to identify a successful approach. Due to tumour complexity, techniques such as 3D cultures, able to...

Introduction: Multiple endocrine neoplasia type 1 syndrome (MEN1) is a hereditary autosomal dominant disorder caused by germline mutations in the MEN1 tumour-suppressor gene and is typically characterized by parathyroid adenomas, duodenopancreatic neuroendocrine tumors (NETs) and pituitary adenomas. Breast cancer has recently been identified as manifestation of MEN1 and female patients have early onset elevated breast cancer risk.Case report: Female pati...

Background: Assessment of response to therapy is a valid tool for dynamic risk stratification in patients with differentiated thyroid cancer (DTC). It is well documented in patients treated with total thyroidectomy and radioiodine ablation therapy (RAI), but data is still sparse regarding patients treated with lobectomy. Our study aimed to evaluate response to therapy in patients with DTC treated with lobectomy.Methods: We performed a retrospective study...