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...

Background: Several polymorphisms of glucocorticoid receptor (GR) gene, including BclI, N363S and ER22/23EK, which may have an influence on glucocorticoid sensitivity, have been reported. BclI and N363S polymorphisms have been associated with clinical characteristics of increased and ER22/23EK of decreased glucocorticoid (GC) effects. On the other hand, metabolic syndrome has been described in patients with adrenal incidentalomas.Objective ...

Introduction: Generously supported by IPSEN)-->The coexistence of acromegaly and secondary polycythemia has been described in a few patients. This association was ascribed to GH/IGF1 proliferative effect on bone marrow progenitor cells. In contrast, the presence of myeloproliferative neoplasm (MPN) with documented JAK2 mutation so far has been described in only one acromegalic patient.Methods: We analyzed the p...

Introduction: Intronic BclI polymorphism of glucocorticoid receptor (GR) gene and adrenal adenomas of incidental discovery are frequently associated with metabolic syndrome. We studied in these patients metabolic and hormonal parameters, the sequence alteration in BclI polymorphism of the GR gene from constitutive DNA and the expression of Hsp70 within the tumor and in tissue adjacently to tumor.Patients and methods: We assessed 114 healthy...

Several RET proto-oncogene germline mutations with dominant inheritance, predispose to hereditary medullary thyroid carcinoma (MTC), and whether the MTC is sporadic or hereditary should be determined by a direct analysis of the RET proto-oncogene. 85% of MEN IIA patients and 30% of patients with familial medullary thyroid carcinoma have mutations at codon 634 (exon 11). In 88 consecutive patients with MTC, the characterization of RET mutations in exon 11 had been done by PCR w...