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...

Introduction: Calcitonin secreting neuroendocrine tumors (NET) are rare and not well recognized. Due to many similarities, it is sometimes difficult to differentiate them from medullary thyroid carcinoma (MTC), which can hamper choice of proper therapy. We investigated our group of patients with this type of NET in terms of diagnosis and biology.Patients and Methods: We analyzed 38 patients with calcitonin secreting NET (5% of all our patients with NET)....

Introduction: Medullary thyroid carcinoma (MTC) is a malignant neoplasm derived from the parafollicular cells of the thyroid gland. Approximately 25% of them are caused by germline mutations of the RET gene, presenting as a part of FMTC, MEN2A or MEN2B syndrome.Design of the study: We analysed 213 consecutive patients with MTC (142 females, 71 males, age 6–78, mean 45 years), treated in a single centre from 2004 to 2014. Direct DNA sequenci...