Endocrine Abstracts

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...

Background: Ret protooncogene germ-line mutations are associated with the inherited multiple endocrine neoplasia type 2 syndromes (MEN2a and MEN2b) and also with familial medullary thyroid carcinoma (FMTC). In this study, we report a large scale of mutations in exon 10, 11, 13 and 14 RET protoocogene in patients from Serbia. Our study included patients with MTC.Methods: Our study included 180 patients. Patients were tested for RET protooncogene mutations...

Background: Several susceptibility genes have been found to be associated with development of pheochromocytoma (PHEO): RET, VHL, SDHB and SDHD. We investigate the frequency of germ-line mutations in SDHB and VHL genes in patients with apparently sporadic PHEO.Material and methods: Fifty patients (38 women, mean age 42) with apparently sporadic adrenal and extra-adrenal PHEO were screened. DNA was extracted from whole blood and from paraffin embedded tumo...

Background: Mutational screening of the MEN1 gene has been recommended for patients who fulfill clinical criteria for familial or sporadic MEN1 and those suspicious or atypical of MEN1.Patients and methods: Eighteen apparently unrelated individuals (6 males; 12 females, age range 16–71) with clinical manifestations of MEN1 were analised. In addition, we evaluated 7 relatives. Genomic DNA from peripheral blood leucocytes was extracted using st...