Endocrine Abstracts

Objective: Sporadic adrenocortical tumors are common, but their pathogenesis is poorly elucidated. Several mRNA profiling and comparative genome hybridization (CGH) studies have been performed on adrenocortical tumors to date. Meta-analysis of these results may be warranted due to the low number of tumor samples examined in several individual studies. Here, we present an integrative meta-analysis of gene expression microarray and CGH studies performed to date on sporadic adren...

Introduction: MicroRNAs (miRs) are 16–29 nucleotide long, non-coding RNA molecules that post-transcriptionally regulate gene expression via RNA interference. It has been shown that they participate in control of cell proliferation, cell differentiation, signal transduction, cell death and carcinogenesis.Aim: To examine the role of the miRs in sporadic pituitary tumourigenesis.Methods: Twenty-five sporadic pituitary adenoma spe...

We report a family with a novel heterozygous mutation of the menin gene. This gene encodes a tumor suppressor protein which is responsible for multiple endocrine neoplasia type 1. The index female patient presented with symptoms of mild gastric hyperacidity and recurrent kidney stones. Family history revealed, that the daughter, as well as two sisters of the index patient had operations for primary hyperparathyroidism (PHPT). Clinical studies in the index patient showed elevat...

New possible pathogenic variants involved in pheochromocytomas and paragangliomasIntroduction: Pheochromocytomas and paragangliomas (PPGLs) are rare tumors of the chromaffin tissues that store and release catecholamines in excess. Most pheochromocytomas are sporadic, usually resulting in unilateral adrenal tumor, but 25–45% harbour a germline mutation.Aim: To describe new possible pathogenic variants (VUS) involved in PPGLs.</...

Adrenocortical tumors are common, occuring in 5-7% of the population. Adrenocortical carcinoma (ACC) is rare (0.7-2/million/year) and it has a poor prognosis with a five-year survival of less than 30% in advanced stages. The histological differentiation of benign and malignant adrenocortical tumors is challenging.Objectives: To explore the diagnostic utility of multiple microRNAs in various combinations as markers of adrenocortical malignancy by using ar...

Background: The standard, lifelong therapy of phenylketonuria (PKU) is natural protein-restricted diet completed with Phenylalanine (Phe)-free L-amino acid mixtures that provide the daily necessary micronutrients, such as iodine and selenium. Our main objective in this study was to assess the iodine and selenium status of patients with PKU, based on their adherence to the low-Phe diet, compared to a healthy control group. Secondly, we aimed to asses whether adherence to therap...

Background: Few effective medical treatment options are available for adrenocortical carcinoma (ACC). Intensive efforts are therefore going on for exploring novel pathways and treatment targets.Objective: To perform a proteomic and pathway analysis on a 9-cisRA (9-cis retinoic acid) and mitotane-treated ACC xenograft model.Methods: 43 male SCID mice xenografted with NCI-H295R cells were treated in four groups (i. control, ii. 5 mg/...

Introduction: There are three principal high-throughput methods that have been widely used to determine whole genome miRNAs expression profiles: i) microarrays, ii) qPCR based arrays, and iii) next generation sequencing (NGS). Our aim was to compare the results obtained from these platforms in normal and adenomatous pituitary samples and to validate the results by an independent sample set using qPCR.Material and methods: Using four normal pituitary (NP)...

Background: Current drug treatment options for adrenocortical carcinoma (ACC) are rather limited and intensive efforts are going on to find novel effective agents. In our previous functional genomics study, retinoid signalling via the retinoid X receptor (RXR) was identified as a major pathogenic pathway in ACC and we have demonstrated the in vitro activity of 9-cis retinoic acid (9-cisRA) acting via the RXR on NCI-H295R cells and also found that 9-cisRA has antitumou...

Background: The medical treatment options of adrenocortical cancer are limited. In our previous meta-analysis of adrenocortical tumor genomics data, adrenocortical cancer was found to be associated with reduced retinoic acid production and retinoid X receptor-mediated signaling.Objective: To study the potential antitumoral effects of 9-cis-retinoic acid (9-cisRA) on the adrenocortical cancer cell line NCI-H295R and in a xenograft model....