Searchable abstracts of presentations at key conferences in endocrinology

ea0063p1161 | Thyroid 3 | ECE2019

Do patients with differentiated thyroid cancer (DTC) harboring TERT promoter mutation require a more intensive treatment and follow-up? – proposal of a prospective study

Samborski Konrad , Krajewska Jolanta , Rusinek Dagmara , Oczko-Wojciechowska Magdalena , Jarzęb Barbara

Introduction: The importance of telomerase reverse transcriptase promoter (TERTp) mutations in DTC is widely discussed. It has been demonstrated that the presence of TERTp mutations is associated with higher cancer aggressiveness, reflected by lymph node metastases, distant metastases, advanced tumor stage, recurrence, and even disease-specific mortality. Nevertheless, there is no clear evidence-based data demonstrating how to manage these patients. Therefore...

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...

ea0035oc3.5 | Neuroendocrinology & 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 ...

ea0035p1152 | Thyroid Cancer | ECE2014

Gene expression signature associated with BRAFV600E mutation in human papillary thyroid carcinoma based on transgenic mouse model

Rusinek Dagmara , Swierniak Michal , Chmielik Ewa , Kowal Monika , Kowalska Malgorzata , Czarniecka Agnieszka , Przeorek Cezary , Cyplinska Renata , Jarzab Michal , Widlak Wieslawa , Jarzab Barbara

Objectives: Recent studies on BRAFV600E mutation, known as initiating event in papillary thyroid carcinoma (PTC) and related to more aggressive clinical course of the disease, revealed its significant influence on gene expression profile suggesting that BRAF(+)PTCs represent a molecular subtype of PTC. However, the human material disables distinction of possible molecular causes of cancer from its effects, unlike the mouse model. The main goal of our project was to find genes ...

ea0092ps1-09-09 | Thyroid Cancer | ETA2023

A novel somatic genetic alteration in sporadic medullary thyroid carcinoma

Kowalska Malgorzata , Pfeifer Aleksandra , Zebracka-Gala Jadwiga , Cieślicka Marta , Chmielik Ewa , Rusinek Dagmara , Krajewska Jolanta , Czarniecka Agnieszka , Oczko-Wojciechowska Malgorzata

Introduction: Medullary thyroid carcinoma (MTC) is a malignant thyroid tumor originating from parafollicular C-cells. Most of MTCs (75%) are sporadic while remaining are hereditary. The hereditary form of MTC is a consequence of the mutation of the proto-oncogene RET (Rearranged During Transfection). Somatic mutations of the RET gene are also present in 40%-70% of the sporadic form of MTC (sMTC). Somatic mutations are also observed in the RAS genes and very rarely in the BRAF ...

ea0040p5 | (1) | ESEBEC2016

Mouse model of BRAFV600E-induced papillary thyroid carcinoma – summary of our results

Rusinek Dagmara , Swierniak Michal , Chmielik Ewa , Kowal Monika , Kowalska Malgorzata , Cyplinska Renata , Czarniecka Agnieszka , Piglowski Wojciech , Korfanty Joanna , Chekan Mykola , Jarzab Michal , Krajewska Jolanta , Szpak-Ulczok Sylwia , Widłak Wieslawa , Jarzab Barbara

Introduction: BRAFV600E mutation is the most frequent alteration in papillary thyroid carcinoma (PTC). Although its relation to factors of poor prognosis was demonstrated in many studies the use of BRAF as a predictive marker in clinical treatment of PTC patients is controversial. The aim of our study was to analyze molecular consequences of BRAFV600E mutation in a transgenic mouse model performed for this purpose and to refer the obtained results to...

ea0035oc5.5 | Adrenal & Thyroid | ECE2014

Validation of follicular thyroid cancer molecular classifier in fine-needle aspiration biopsy samples

Pfeifer Aleksandra , Bartosz Wojtas , Malgorzata Oczko-Wojciechowska , Aleksandra Kukulska , Agnieszka Czarniecka , Markus Eszlinger , Thomas Musholt , Tomasz Stokowy , Ewa Stobiecka , Jolanta Krajewska , Dagmara Rusinek , Tomasz Tyszkiewicz , Monika Kowal , Michal Jarzab , Steffen Hauptmann , Dariusz Lange , Ralf Paschke , Barbara Jarzab

Introduction: Follicular adenomas (FTA) and carcinomas (FTC) are thyroid tumours that are indistinguishable in the fine needle aspiration biopsy (FNAB). In our previous research we concentrated on post-operative material and developed the classifier, which discriminates the FTC and FTA, based on formalin-fixed paraffin-embedded (FFPE) material. The classifier was based on expression of five genes and gave the promising sensitivity of 71% and specificity of 72%. The aim of the ...

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...

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...