Endocrine Abstracts

Clear renal cell carcinoma (ccRCC) is a highly vascularized and proliferative tumor. ccRCC can be sporadic or familiar, usually associated with von Hippel-Lindau (VHL) gene mutations. VHL protein is part of the E3 ubiquitin ligase complex that regulates hypoxia-inducible factor (HIF). When a defective and inactive VHL protein is produced, HIF is not degraded, resulting in over-expression of hypoxia related genes including erythropoietin (EPO) and vascular endothelial growth fa...

The clear cell renal cell carcinoma (ccRCC) can be sporadic or familiar, with the mutated von Hippel-Lindau (VHL) gene. The inactive VHL protein prevents degradation of hypoxia inducible factor (HIF) that promotes overexpression of angiogenic factors such as vascular endothelial growth factor (VEGF) and erythropoietin (EPO). Sequencing and multiplex ligation-dependent probe amplification (MLPA) of VHL gene in 43 samples of ccRCC in tumors vs surrounding healthy tissues reveale...

Neuroendocrine tumors encompass a heterogeneous group of tumors arising from the diffuse neuroendocrine system. The incidence of NETs rises with age, with the peak after 65 years. However, all NETs observed in adults may be diagnosed in children too. There are a very few studies addressing NETs in young patients. This study summarizes clinical, histopatological and genetic characteristics of young patients with NETs. This is a retrospective study describing clinical, histopath...

PNETs represent the leading cause of mortality in MEN1 patients. Yet, their characteristics, behaviour, and therefore management, are still uncertain.The aim of this study was to describe the main clinical characteristics of NETs in MEN1, and to compare them with sporadic NETs.We investigated 164 patients with PNETs retrospectively, treated in one centre from 2004–2016. We identified 15 (9.1%) patients with MEN1. All patients ...

Multiple endocrine neoplasia type 1 (MEN1) syndrome is an autosomal dominant familial tumor syndrome characterised by varying combinations of endocrine and non-endocrine tumors. Breast cancer is the most frequently diagnosed cancer in women, but presence of breast cancer in MEN1 is extremely rare.A 36-year-old patient has been diagnosed with primary hyperparathyroidism, breast cancer and hyperprolactinemia due to a pituitary macroprolactinoma. Treatment ...

The co-secretion of GHRH and GH has been described previously in a patient with GHRH producing pituitary somatotroph adenoma. Here we present a patient with MEN1 and ectopic secretion of both GHRH and GH from a neuroendocrine lung tumor.A 52-year-old woman was diagnosed in 2009 with two lung tumors, 4 cm right upper lobe tumor, and 2 cm left lower lobe tumor. Owing to a mild coarsening of facial features, acromegaly was suspected. Endocrine studies showe...

Introduction: Multiple endocrine neoplasia type 1 (MEN1) is a rare multitumour syndrome, characterized by the occurrence of parathyroid (PHPT), pituitary adenoma (PA) and pancreatic neuroendocrine tumors (pNETs). The gene responsible is MEN1 gene, however 10 to 20% of patients are not carriers of MEN1 mutation. Recently, a study has shown that these patients have less aggressive course of the disease, and more favorable life expectancy than their mutation-pos...