Searchable abstracts of presentations at key conferences in endocrinology

ea0014p177 | (1) | ECE2007

Screening for mutations in exon 10, 11, 13 and 14 of the RET protooncogene associated with inherited medullary thiroid carcinoma (MTC) in Serbian population

Nikolic Jelena , Vignjevic Jovana , Mirkovic Katarina , Beleslin-Cokic Bojana , Antic Jadranka , Isailovic Tatjana , Petakov Milan , Damjanovic Svetozar

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...

ea0014p285 | (1) | ECE2007

Frequency of three major glucocorticoid receptor gene polymorphisms in patients with adrenal incidentalomas

Antic Jadranka , Cokic Bojana Beleslin , Ognjanovic Sanja , Vignjevic Jovana , Mirkovic Katarina , Nikolic Jelena , Paunovic Ivan , Damjanovic Svetozar

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 ...

ea0014p516 | (1) | ECE2007

Composite medullary and papillary tumor with mixed lymph node metastases

Isailovic Tatjana , Petakov Milan , Macut Djuro , Popovic Bojana , Bozic Ivana , Ognjanovic Sanja , Nikolic Jelena , Vignjevic Jovana , Mirkovic Katarina , Damjanovic Svetozar

A 34 year-old female patient was admitted to the hospital because of a large nodule in the left thyroid lobe and elevated calcitonine level. A large encapsulated tumor was found and total thyroidectomy with left neck dissection was performed. Pathohistology revealed medullary and papillary carcinoma separate from each other in tumor tissue but mixed in regional lymph nodes. Papillary component was dominant in thyroid tissue but not in lymph nodes. Both calcitonine and thyroglo...

ea0014p173 | (1) | ECE2007

Novel mutations in genes encoding succinate dehydrogenase complex subunits B (SDHB) and von Hippel-Lindau protein (VHL) in patients with nonsyndromic pheochromocytoma

Vignjevic Jovana , Nikolic Jelena , Isailovic Tatjana , Mirkovic Katarina , Petakov Milan , Antic Jadranka , Macut Djuro , Beleslin-Cokic Bojana , Popovic Bojana , Bozic Ivana , Ognjanovic Sanja , Damjanovic Svetozar

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...

ea0014p176 | (1) | ECE2007

Mutational analysis in patients with nonsyndromic MEN1

Mirkovic Katarina , Beleslin-Cokic Bojana , Vignjevic Jovana , Nikolic Jelena , Antic Jadranka , Popovic Bojana , Isailovic Tatjana , Bozic Ivana , Petakov Milan , Macut Djuro , Ognjanovic Sanja , Damjanovic Svetozar

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...

ea0013p327 | Thyroid | SFEBES2007

RET proto-oncogene exon 11 germline mutations in patients with medullary thyroid carcinoma

Petakov Milan , Nikolic Jelena , Katarina Mirkovic , Jadranka Antic , Jovana Vignjevic , Bojana Beleslin-Cokic , Tatjana Isailovic , Sanja Ognjanovic , Djuro Macut , Svetozar Damjanovic

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...