Searchable abstracts of presentations at key conferences in endocrinology

ea0022p449 | Endocrine tumours &amp; neoplasia (<emphasis role="italic">Generously supported by Novartis</emphasis>) | ECE2010

Pheochromocytomas in the RET protooncogene mutations carriers

Hasse-Lazar Kornelia , Krawczyk Aleksandra , Szpak-Ulczok Sylwia , Pawlaczek Agnieszka , Ziaja Jacek , Jarzab Barbara

Mutations in the RET protooncogene cause familial cases of medullary thyroid cancer, which in some cases coexists with pheochromocytoma and primary hyperparathyreoidism as the MEN2A syndrome.Aim of the study: Evaluation of frequency of pheochromocytomas and their clinical course in the RET protooncogene mutations carriers.Material: One hundred and seventy nine patients, among them 109 probands and 70 family members in...

ea0014p164 | (1) | ECE2007

Analysis of germline mutations in patients with pheochromocytomas and paragangliomas

Krawczyk Aleksandra , Hasse-Lazar Kornelia , Ziaja Jacek , Pawlaczek Agnieszka , Krajewska Jolanta , Peczkowska Mariola , Preibisz Aleksander , Kubaszek Agata , Januszewicz Andrzej , Jarzab Barbara

There are two types of neoplasms derived from chromaffine tissue: pheochromocytomas (tumors of adrenal core) and paragangliomas (tumors located extraadrenally). Majority of these tumors are sporadic, although according to literature, when DNA analysis is carried out, hereditary disease can be diagnosed in about 25% of patients: Multiple Endocrine Neoplasia type 2 (MEN2A and MEN2B), von Hippel-Lindau Syndrome (VHL), Pheochromocytoma/Paraganglioma Syndrome (PPS) and neurofibroma...

ea0014p165 | (1) | ECE2007

RET exon 13 germline polymorphism in patients with pheochromocytomas and paragangliomas

Hasse-Lazar Kornelia , Pawlaczek Agnieszka , Krawczyk Aleksandra , Wiench Malgorzata , Oczko-Wojciechowska Malgorzata , Peczkowska Mariola , Preibisz Aleksander , Kubaszek Agata , Januszewicz Andrzej , Ziaja Jacek , Jarzab Barbara

Germinal mutations in protooncogene RET are associated with the inherited medullary thyroid carcinoma (MTC) which occurs as the sole manifestation of disease (FMTC) or, more frequently, as the part of multiple endocrine neoplasia (MEN2). The contribution of RET polymorphism to the occurrence of apparent sporadic MTCs is controversial. In our previous study we have found out that the frequency of RET 769 CTT>CTG polymorphism in patients with MTCs is not significantly higher...