Endocrine Abstracts

Introduction: The hypothalamic–pituitary–adrenal axis setpoint and the glucocorticoid sensitivity in various tissues are at least partly genetically determined. The glucocorticoid receptor (GR) gene polymorphisms may have an impact on the development and/or the variability of clinical manifestations of endogenous hypercortisolism, however their role has not been investigated in patients with endogenous hypercortisolism.Methods: We investigated ...

Introduction: Pheochromocytomas and paragangliomas (Pheo/PGL) are rare neuroendocrine tumours arising from the adrenal medulla or the symphathetic paraganglia, respectively. Germline mutations are present in ~40% of the patients. To date, at least 16 genes have been demonstrated to be involved in the genetic background of Pheo/PGL. Prioritization in order of genes tested can be applied, but if the probability of a disease-associated germline mutation exceeds 10% the testing of...

Introduction: Medullary thyroid carcinoma (MTC) in multiple endocrine neoplasia type 2B (MEN2B) syndrome is associated with RET mutation. Patients harbouring de novo mutations are usually diagnosed in more advanced stages of the disease. We present the case of a young female patient with MEN2B diagnosed with stage IV medullary thyroid carcinoma at the age of 10 years.Aim: Characterizing the efficacy of the different sequences of therapies and disease pro...

Paltusotine is an investigational oral, once-daily, non-peptide, SST2 agonist in development for the treatment of acromegaly and neuroendocrine tumors. Interim analysis results from subjects with acromegaly treated with paltusotine for up to 2 years in ACROBAT Advance (NCT04261712), an ongoing, open-label extension study are reported here. Prior to Advance, subjects previously completed one of two Phase 2 parent studies, Evolve (NCT03792555, with normal IGF-1 using injected lo...

Introduction: Adrenocortical carcinoma (ACC) is a rare disease with a poor prognosis. In recent years, two prognostic scoring systems incorporating relevant clinicopathological features of ACC (ENSAT stage, grade, resection status, age at diagnosis, tumour symptoms) have been proposed: the GRAS and S-GRAS scoring systems. The prognostic value of these systems has been demonstrated in large, multicentre studies.Aim: To su mmarize the clinicopathological f...

Introduction: The capability of cancer to accommodate to special metabolic circumstances is a hallmark of it’s existence. Pheochromocytoma/paragangliomas (Pheo/PGL) are rare neuroendocrine tumors with strong and specific metabolic phenotype due to mutations of genes encoding succinate dehydrogenase (SDH) subunits. In this study our aim was to evaluate the expression of glutaminase-1 in hereditary Pheo/PGL tissues and to inhibit SDH activity via pharmacological treatments ...

Introduction: Spindle cell oncocytomas (SCO) of the pituitary are rare tumors accounting for 0.1–0.4% of all sellar tumors. Due to its rarity, little information is available regarding its pathogonesis. The altered gene expression and the possible pathogenetic role of microRNAs (miRNAs) have been identified in many tumor types, however, until now ther is no data regarding their role in pituitary oncocytoma.Materials and methods: Total RNA was extrac...

Background: Extracellular vesicles (exosomes, microvesicles) shed from tumor cells containing microRNAs can be exploited as markers of malignancy. The preoperative diagnosis of adrenocortical malignancy is difficult and microRNAs have proved useful in the diagnosis of many tumors, including adrenocortical cancer (ACC), but there have no studies to date on extracellular vesicle associated microRNAs in ACC.Aim: To evaluate the diagnostic potential of extra...

Background and aim: Primary hyperparathyroidism (PHPT) is a frequent endocrinopathy among postmenopausal women, leading to hypercalcaemia, osteoporosis and nephrolithiasis. PHPT may represent the first manifestation of certain familial syndromes. Among these, multiple endocrine neoplasia syndrome type 1 (MEN-1) caused by germline mutation of MEN1, the gene encoding menin, is the most frequent. Additionally, somatic mutations of MEN1 and microRNAs silencing <e...

Background: The differential expression of tissue microRNAs in benign and malignant adrenocortical tumours has been described in several studies including ours. Novel data show that microRNAs are also present in the bloodstream and can be exploited as minimally invasive markers of malignancy.Objective: To analyze the microRNAs expressed in different studies by an in silico approach and to establish the molecular pathways affected. Furthermore, circulatin...