Endocrine Abstracts

Objective: RET fusion genes are known driver mutation in thyroid cancer and have been described mainly in pediatric thyroid carcinomas, in which they represent the most common genetic alteration. In large cohorts of adult patients, RET fusions have not yet been well characterized. The aims of this study were to identify RET fusion-positive thyroid tumors in a cohort of different types of thyroid carcinomas and to correlate them with clinical and hist...

Background: Molecular mechanisms underlying the pathogenesis of adrenocortical adenomas (ACAs) and autonomous cortisol secretion remains frequently unexplained despite previous comprehensive genomics studies.Aim: To gain novel insights into molecular pathogenesis of adrenocortical tumours by investigating transcriptome profiles of ACAs at single-nuclei resolution (snRNA-Seq), using adult human normal adrenal glands (NAGs) as reference.<p class="abste...

Introduction: The prevalence of metabolic syndrome is increasing in individuals with T1D, which could potentiate the development of NAFLD. The pathophysiology of NAFLD in T1D is still unclear, due to the co-existence of predisposing and protective factors. Insulin resistance (IR) is theorized as a key driver of NAFLD.Aim: We investigated the association between liver fat content (LFC), NAFLD, and IR in individuals with T1D. Subjects underwent magnetic re...

Background: Indeterminate thyroid nodules pose a diagnostic dilemma and the patients often undergo unnecessary surgeries or repeat surgery. Currently different molecular methods for detection of driver mutations are being used for better characterisation of these nodules. These methods are costly and not widely available all over the world. Currently use of liquid biopsy by measurement of cell-free DNA (cfDNA) levels from plasma has been useful in diagnosis and follow up of ca...

Objectives: RET fusion genes are known driver mutations in papillary thyroid carcinomas (PTCs) and have been described mainly in pediatric PTCs, in which they represent the most common genetic alteration. The aims of this study were to identify RET fusion genes in PTCs (from pediatric as well as adult patients), to correlate them with clinical and histopathological features and to determine the prognostic significance of RET fusion genes based on lon...

Objectives: Variants in the EIF1AX gene have been reported in malignant as well as benign thyroid nodules and their clinical significance is still unclear due to their low prevalence. The aim of this study was to identify EIF1AX variants in a large cohort of different types of thyroid nodules and to correlate them with clinical and pathological data.Methods: The study consisted of 904 thyroid nodule samples. The cohort included 577 papi...

Background: New therapeutics and combinations are needed to improve the survival of patients with advanced, metastatic pancreatic NETs (pNETs). RABL6A is a novel oncogenic driver of pNET pathogenesis that acts through multiple oncogenic pathways. Kinome and phosphoproteome analyses of proliferating (RABL6A-positive) pNET cells, vs arrested (RABL6A-knockdown) controls, demonstrated that druggable cyclin-dependent kinase 4 and 6 (CDK4/6) and MEK kinases are activated in growing ...

Background: TQ Formula (TQ, C10H12O2), is an oral formulation, derived from the black seed (Nigella sativa, Ranunculaceae family), and has anti-oxidant, anti-angiogenic effects. TQ Formula has been shown to induce significant immune modulatory effects in a recently published Covid-19 study. Previous studies reported blackseed’s apoptotic and anti-proliferative effects of its components on multiple cancer types, including colon, breast and ovarian adenocarcinoma. Our preli...

The expression of key molecules involved in fundamental cell processes and epigenetic gene expression modulation is altered in human parathyroid tumours, due to gene mutations, loss of heterozygosity, aberrant gene promoter methylation, DNA copy number variations. We performed a gene profiling of 26 parathyroid tumorigenesis-related genes in a series of 32 sporadic parathyroid adenomas (PAds) surgically removed from patients with primary hyperparathyroidism, with the aim to de...

Introduction: XX male syndrome is a disorder of sex development associated with a 46, XX karyotype and is characterized by such features as: small testes, hypergonadotropic hypogonadism, male external genitalia, gynecomastia and azoospermia. The estimated prevalence is 1/20.000 males. Gender role and gender identity are reported as male. Identification and subsequent treatment is necessary to avoid the manifestations of testosterone deficiency.Clinical C...