Endocrine Abstracts

The analysis of mRNA expression (transcriptome) and microRNAs represent powerful tools for elucidating the pathogenesis of tumours, establishment of biomarkers and identifying possible drug targets. Several studies have been performed to date on the mRNA expression profiles of adrenocortical tumours. Some studies on the transcriptome of phaeochromocytomas and the microRNA expression patterns in adrenocortical and adrenomedullary tumours have also been recently reported. Transc...

Introduction: The human GNAS gene is coding for the alpha stimulatory subunit of the guanine nucleotide-binding protein. This G protein stimulates the activity of the adenylate cyclase enzyme which is in control of the production of various hormones in endocrine glands and also regulates bone development. Mutations in GNAS can lead to McCune Albright syndrome, progressive osseous heteroplasia or pseudohypoparathyroidism.Aim: Our aim was to find the genet...

Oncogenic osteomalacia (tumor induced osteomalacia-TIO) is a rare disease that can lead to severe physical handicap and pains. Its pathogenesis involves the secretion of fibroblast growth factor-23 inducing urinary phosphate loss and consequent hypophosphataemia. We report a case of a TIO caused by a tumor in the nasal cavity. In 2010, a 61-years-old woman was examined because of muscle weakness and arthralgia in the extremities. Her symptomes started ~3 years before her prese...

Background: The pathogenesis of neural crest-derived tumours (phaeochromocytoma and neuroblastoma) is complex, and several studies applying functional genomics approaches have been performed in these tumours to date. However, the comparison of their genomic features has not been performed yet.Objective: We have carried out an in silico meta-analysis of altogether 1784 neuroblastoma and 351 phaeochromocytoma samples to establish similarities and differenc...

Background: The adrenolytic agent mitotane is widely used in the adjuvant treatment of adrenocortical cancer, but its mechanism of action including potential effects on mRNA expression is poorly elucidated.Objective: To examine mitotane-induced mRNA expression changes in the H295R adrenocortical cancer cell line.Methods: Various concentrations of mitotane in different treatment periods (24–120 h) have been tested in cell viabi...

Background: Pheochromocytomas (Pheo) and paragangliomas (PGL) are rare, mostly benign tumors. Most of these tumors are sporadic but a significant percentage can be found as components of hereditary tumor syndromes caused by germline mutations of the VHL, RET, NF1, SDHD, SDHC, SDHB and the recently identified SDHAF2 genes. Germline mutations of these genes can be also found in several cases with apparently sporadic Pheo/PGL.<...

Introduction: Adrenocortical cancer is a rare malignant tumour with a poor prognosis. The incidence is 0.7–2.0/million/year.Objectives: The aim of this study was to characterise the clinicopathological features and prognostic factors of a large cohort of patients with adrenocortical cancer diagnosed between 1974–2019.Patients and Methods: The study included eighty patients (22 men and 58 women) with histologically confi...