Searchable abstracts of presentations at key conferences in endocrinology

ea0056p125 | Endocrine tumours and neoplasia | ECE2018

Heterogeneous genetic background of Hungarian patients with pheochromocytoma/paraganglioma requires gene panel testing

Sarkadi Balazs , Zakarias Sara , Liko Istvan , Grolmusz Vince Kornel , Butz Henriett , Toth Miklos , Szucs Nikolette , Igaz Peter , Patocs Attila

Introduction: Pheochromocytomas and paragangliomas (Pheo/PGL) are rare neuroendocrine tumours arising from the adrenal medulla or the symphathetic paraganglia, respectively. Germline mutations are present in ~40% of the patients. To date, at least 16 genes have been demonstrated to be involved in the genetic background of Pheo/PGL. Prioritization in order of genes tested can be applied, but if the probability of a disease-associated germline mutation exceeds 10% the testing of...

ea0063gp6 | Adrenal and Neuroendocrine - Tumour | ECE2019

Cellular modelling of SDH-associated pathomechanism of pheochromocytomas and paragangliomas

Sarkadi Balazs , Meszaros Katalin , Krencz Ildiko , Zakarias Sara , Nemeth Kinga , Barja Gabor , Sebestyen Anna , Papay Judit , Borka Katalin , Hujber Zoltan , Toth Miklos , Igaz Peter , Chinopoulos Christos , Patocs Attila

Introduction: The capability of cancer to accommodate to special metabolic circumstances is a hallmark of itÂ’s existence. Pheochromocytoma/paragangliomas (Pheo/PGL) are rare neuroendocrine tumors with strong and specific metabolic phenotype due to mutations of genes encoding succinate dehydrogenase (SDH) subunits. In this study our aim was to evaluate the expression of glutaminase-1 in hereditary Pheo/PGL tissues and to inhibit SDH activity via pharmacological treatments ...

ea0070oc1.1 | Adrenal and Cardiovascular Endocrinology | ECE2020

Inhibition of glutaminases as a potential novel treatment for SDHB-associated pheochromocytomas/paragangliomas

Sarkadi Balázs , Katalin Meszaros , Krencz Ildiko , Canu Letizia , Krokker Lilla , Zakarias Sara , Barna Gabor , Sebestyen Anna , Papay Judit , Hujber Zoltan , Butz Henriett , Darvasi Otto , Igaz Peter , Doczi Judit , Luconi Michaela , Chinopoulos Christos , Patocs Attila

Pheochromocytoma/paragangliomas (Pheo/PGL) are rare neuroendocrine cancers with strong genetic background. Mutations in the SDHB subunit of succinate dehydrogenase (SDH) predispose to malignant disease with limited therapeutic options and poor prognosis. Novel prognostic markers and therapeutic targets are required to decrease the high mortality rate. Glutaminases play a crucial role in the metabolism of SDH impaired tumor cells. By using a host of cellular and molecu...