Endocrine Abstracts

Background: Retroperitoneal Schwannomas are rare and generally benign tumors originating from the neural sheath. In particular, juxta-adrenal schwannomas may be misdiagnosed as adrenal tumors due to their location and radiological characteristics.Case Presentation: A 40-year-old female patient referred to our outpatient clinic owing to a left suprarenal mass of 35 mm incidentally discovered in an enhanced CT. She was asymptomatic and the clinical examina...

Introduction: Doege-Potter syndrome (DPS) is a rare paraneoplastic syndrome consistent in non-islet-cell tumor hypoglycemia associated with solitary fibrous tumor (SFT). Pathogenesis of hypoglycemia has been attributed to the production of insulin-like growth-factor-2 (IGF-2) by tumor cells. We report two DPS patients with metastatic extrapleural SFT.Case 1: A 42-year-old man with SFT of the mesocolon that had been operated in 2010, presented with metast...

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...

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...

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...

Cushing’s Disease (CD) is a rare condition mostly caused by an ACTH-secreting pituitary tumor resulting in excess of cortisol release by the adrenal glands. Although pasireotide is the only pituitary-targeted drug approved to treat adult patients, many side effects are encountered during the clinical practice and a curative therapy for CD is still challenging. Recently, the discover of somatic mutations in the deubiquitinase USP8 gene in a subset of patients has ...

Cushing’s Disease (CD) is a rare condition characterized by an overproduction of ACTH by an ACTH-secreting pituitary tumor resulting in excess of cortisol release by the adrenal glands. Somatic mutations in the deubiquitinases USP8 and USP48, and in BRAF genes, have been reported in a subset of patients affected by CD. Aim of this study was to characterize the genetic profile of a cohort of 66 patients with ACTH-secreting tumors, searching for somatic mutations in USP8, U...

Cytological evaluation establishes the diagnosis of a benign or malignant nodule in 70–80% of all cases, but the remaining cases lack the features needed for a definitive diagnosis. Molecular tests have been developed to assist in determining if a nodule with indeterminate cytology is benign or malignant. The first studies focused on the analysis of the most common thyroid cancer (TC) mutation, BRAFV600E. However, since many TCs are driven by other mutations, testing for ...

The evaluation of a thyroid nodule is a very common clinical problem and fine needle aspiration biopsy (FNAB) is the only test that can provide a definitive preoperative diagnosis of malignancy. The sensitivity and specificity of FNAB are limited by aspirates that yield insufficient material for definitive diagnosis and those with indeterminate diagnoses, which can account for up to 30–40% of all specimens. The detection of several novel gene mutations in differentiated t...

A role for glucocorticoids (GCs) in the regulation of carbohydrate metabolism and the development of diabetes was first described over 70 years ago. Whilst there is little doubt that systemic GC excess leads to insulin resistance the tissue specific mechanisms underpinning their effect on insulin sensitivity remain to be understood. We have defined tissue specific effects of GCs on insulin sensitivity and lipid metabolism in vitro and in vivo. In skeletal myotube...