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...

ea0035p540 | Endocrine tumours and neoplasia | ECE2014

Monitoring of pheochromocytomas development in proto-oncogene RET mutation’s carriers

Kotecka-Blicharz Agnieszka , Jurecka-Lubieniecka Beata , Michalik Barbara , Pawlaczek Agnieszka , Oczko-Wojciechowska Malgorzata , Hasse-Lazar Kornelia , Jarzab Barbara

Proto-oncogene RET encodes a receptor tyrosine kinase. Germline point mutations of RET result in development of multiple endocrine neoplasia, type 2 (MEN 2). MEN 2 phenotype is correlated with intragene localization of germline mutation. The disease has three main subtypes, MEN 2A, MEN 2B and FMTC. Each of subtypes is associated with high risk of medullary thyroid cancer, MEN 2A and MEN 2B with 50% risk of pheochromocytoma, MEN 2A with 15–30% risk of primary hyperparathyr...

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&#...

ea0035oc3.5 | Neuroendocrinology &amp; Signalling | ECE2014

NTRK3 receptor expression is strictly associated with medullary thyroid cancer RET mutation status

Oczko-Wojciechowska Malgorzata , Swierniak Michal , Kowalska Malgorzata , Pawlaczek Agnieszka , Kowal Monika , Tyszkiewicz Tomasz , Zebracka-Gala Jadwiga , Rusinek Dagmara , Gawlik Tomasz , Krajewska Jolanta

Aim of the study: Medullary thyroid cancer (MTC) occurs as hereditary and sporadic form. Hereditary type is a consequence of RET proto-oncogene germline mutations also somatic RET mutations are detectable in sporadic MTC tumors. There is a significant relation between site of mutation and the cancer phenotype as well as a clinical course of the MEN 2 Syndrome as a consequence of the different transforming potential of the RET gene mutations. The aim ...

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...

ea0063p421 | Adrenal and Neuroendocrine Tumours 2 | ECE2019

RET Y791F carriers’ medical history – experience from one center

Hasse-Lazar Kornelia , Kotecka-Blicharz Agnieszka , Oczko-Wojciechowska Małgorzata , Pawlaczek Agnieszka , Michalik Barbara , Gawlik Tomasz , Jurecka-Lubieniecka Beata , Krajewska Jolanta , Krol Aleksandra , Legutko Marta , Czarniecka Agnieszka , Zeman Marcin , Jarzęb Barbara

Introduction: Germline mutations of RET oncogene result in development of multiple endocrine neoplasia type 2 (MEN 2). There is a strong correlation between type of the RET sequence changes and the aggressiveness of main syndrome feature, medullary thyroid carcinoma (MTC), and the incidence of remaining manifestations, mainly pheochromocytoma (PHEO). For many of the RET germline mutations, the clinical risk have been precisely defined, but there are ...

ea0040p7 | (1) | ESEBEC2016

The genetic screening of RET proto-oncogene in Polish population during the past two decades

Oczko-Wojciechowska Małgorzata , Sromek Maria , Pawlaczek Agnieszka , Czetwertyńska Małgorzata , Kula Dorota , Żebracka-Gala Jadwiga , Rusinek Dagmara , Kowal Monika , Gubała Elżbieta , Szpak-Ulczok Sylwia , Gawlik Tomasz , Zub Renata , Tyszkiewicz Tomasz , Cyplińska Renata , Hasse-Lazar Kornelia , Wygoda Zbigniew , Krajewska Jolanta , Wiench Małgorzata , Dedecjus Marek , Jarzęb Barbara

Introduction: Gain of function mutations of RET protooncogene are associated with hereditary medullary thyrpoid cancer. There are mainly specific hot-spot RET gene mutations however they may differ between population.Aim of the study: In this study we report the prevalence of RET mutations in Polish population based on 20 years of experience of referral polish centers.Material and methods: RET ge...