Searchable abstracts of presentations at key conferences in endocrinology

ea0035oc1.5 | Thyroid clinical | ECE2014

rh-TSH (Thyrogen) aided radioiodine therapy in children and adolescents with DTC

Handkiewicz-Junak Daria , Roskosz Jozef , Gawlik Tomasz , Olczyk Tomasz , Gubala Elzbieta , Kropinska Aleksandra , Hasse-Lazar Kornelia , Jarzab Barbara

Background: Although recombinant human TSH (rhTSH) is widely used to aid radioiodine treatment of differentiated thyroid cancer (DTC), however, there are data on its effectivness in children and adolescents with DTC.The aim of our retrospective study was to evaluate effectiveness and safety of rhTSH aided radioiodine treatment in DTC patients 18 years of age or younger.Material and Methods: Fifty five children/adolescents (median a...

ea0020p211 | Endocrine tumours and neoplasia | ECE2009

Clinical feature and genetic testing in patients with multiple endocrine neoplasia syndrome type 2

Przybylik-Mazurek Elwira , Hubalewska-Dydejczyk1 Alicja , Pach Dorota , Kuzniarz Sylwia , Jarzab Barbara , Gubala Elzbieta , Pawlaczek Agnieszka , Oczko-Wojciechowska Malgorzata

Background: Multiple endocrine neoplasia syndrome type 2 (MEN2) is a rare disease characterised by inherence in each patient medullary thyroid carcinoma (MTC), pheochromocytoma and in type MEN 2a primary hyperparathyroidism, in type MEN2b marfanoid habitus and neurofibromas. Mutation in RET proto-oncogene at chromosome 10 is a molecular cause of MEN2 syndrome.Methods: Eighteeen patients with MEN2 syndrome were enrolled: (10 women and 8 men) mean age 22&#...

ea0011p495 | Endocrine tumours and neoplasia | ECE2006

Analysis of succynyl dehydrogenase (SDH) subunits gene mutations in patients with paragangliomas

Krawczyk A , Hasse-Lazar K , Pawlaczek A , Rusinek D , Szpak-Ulczok S , Peczkowska M , Preibisz A , Kubaszek A , Gubala E , Januszewicz A , Jarzab B

Tumors derived from chromaffine tissue include pheochromocytomas (tumors located in adrenal medulla) and paragangliomas (extraadrenal tumors). These tumors are in 20–25% inherited. Paragangliomas are even rarer and are presented either as familial disease or pheochromocytoma-paraganglioma syndrome (PPS). The mutations in SDH genes (SDHB, SDHD) are suspected for causing the syndrome.The aim of present study is to look for germline mutat...

ea0014p368 | (1) | ECE2007

Initiating mutations of BRAF gene in papillary thyroid carcinoma and their relation to gene expression profile

Rusinek Dagmara , Wiench Malgorzata , Oczko-Wojciechowska Malgorzata , Zebracka Jadwiga , Kowalska Malgorzata , Handkiewicz-Junak Daria , Szpak-Ulczok Sylwia , Chmielik Ewa , Czarniecka Agnieszka , Jarzab Michal , Gala Grzegorz , Gubala Elzbieta , Jarzab Barbara

Introduction: Discovery of V600E (BRAFT1799A) mutation in papillary thyroid carcinoma (PTC) widened our knowledge about mechanisms of its molecular initiation. It has been revealed that activating mutations of the BRAF kinase are much more frequent in PTC than RET rearrangements.Aim of the study: Estimation of V600E BRAF mutation frequency in PTC and analysis of differences in gene expression profile between papillary thyroid car...