Endocrine Abstracts

Somatic mutations in splicing factor 3 subunit B1 (SF3B1) were found in about 20% of PRL-secreting PitNETs. SF3B1 is involved in pre-mRNA splicing and required for assembly of the U2 complex, which is critical for branch site recognition and the early stages of spliceosome assembly. Patients with mutant prolactinomas showed higher PRL levels and shorter progression-free survival compared to wild-type patients. Aims of the present study were: 1) to characterize the genetic prof...

Introduction: Metastatic pituitary neuroendocrine tumors (PitNETs) or pituitary carcinomas are rare and challenging conditions. We present a recent and encouraging observation of a temozolomide (TMZ)-resistant clinically non-functioning metastatic PitNET showing a remarkable response to the anti-PDL1 drug Pembrolizumab.Case presentation: A 57-years-old man had transsphenoidal surgery in November 2012 for a large non-functioning intra/suprasellar mass rev...

Dopamine receptor type 2 (DRD2) agonists (DA) are the first-choice treatment for prolactin (PRL)-secreting pituitary tumors, but poorly effective in non-functioning (NF)-PitNETs. Along with G protein-dependent signaling, DRD2 also mediates non-canonical beta-arrestin-dependent pathways, where reduction of AKT phosphorylation plays a leading role for the antiproliferative effect of DRD2 in pituitary tumors. Through UNC9994 and MLS1547, a beta-arrestin 2-biased and a G protein-b...

Objective: Since the relationship between thymic hyperplasia (TH) and Graves’ Disease (GD) is of paramount importance for diagnostic and therapeutic choices, a wider knowledge of this association is required for endocrinologists in routine clinical practice. Our aim was to assess the prevalence, the clinical features, and the response to treatment of GD-related TH in an Academic referral centre.Methods: All consecutive cases of GD-related TH at Univ...

Adrenocortical carcinomas (ACCs) are rare endocrine tumors with poor prognosis. They overexpress the insulin-like growth factor 2 (IGF2), that drives a proliferative autocrine loop by binding to IGF1R and IR. The majority of studies focused on IGF1R as mediator of IGF2 biological effects, but recently a high expression of IR, in particular of the isoform A, was observed in most ACCs, suggesting a potential role of this receptor in modulating IGF2 effects in adrenocortical tumo...

Objective Vitamin D (VD) plays a role in immune response. Recent data shows that low levels of VD could worsen COVID-19 outcomes. This study aimed to establish an association between VD levels among COVID-19 patients with clinical outcomes and inflammatory markers.Methods Prospective multicentric cohort study. Consecutively recruitment. Patients were grouped according admission status and level of VD [sufficient >30 ng/ml (VDS), insufficient 20–...

Background and aim: Obesity is associated with a dysregulation of the immune system which can result in a predisposition to the development of autoimmune diseases. The aim of this cross-sectional study was to evaluate anti-pituitary antibodies (APA) in severe obese patients, in order to identify a possible role of the immune system in obesity and to correlate these antibodies with pituitary hormone changes found in obese patients.Matherials and methods: ...

The factors triggering pancreatic neuroendocrine tumor (PanNET) progression are largely unknown. Here we investigated the role and mechanisms of the sumoylation enhancing protein RSUME in PanNET tumorigenesis. Immunohistochemical studies showed that RSUME is strongly expressed in normal human pancreas, in particular in β-cells. RSUME expression is reduced in insulinomas and is nearly absent in other types of PanNETs suggesting a role in PanNET tumorigenesis. In human panc...

Peroxisome-proliferator activated receptors (PPARs) are involved in a number of neoplasia. PPARα (PPARα) is a partner of the aryl hydrocarbon receptor interacting protein (AIP), which is involved in the pathogenesis of pituitary adenomas (PA). We wished to investigate the potential expression and biological significance of PPARα in PA, especially in GH/PRL-secreting tumours.Material and methods: A large series of PA was collected (n</e...

Introduction: PHPT is a common endocrine disease characterized by hypercalcemia and different degree of osteoporosis and nephrolithiasis. PHPT arises in the context of an inherited disease in 5% of cases. Multiple endocrine neoplasia type 1 (MEN1) is the commonest cause of inherited PHPT. The main therapeutic approach for PHPT is surgery, however many patients refuse or have contraindications for surgery while others, in particular those with MEN1 PHPT, have persistent/relapsi...