Endocrine Abstracts

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...

Introduction: The capability of cancer to accommodate to special metabolic circumstances is a hallmark of it’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 ...

The succinate dehydrogenase (SDH) enzyme complex consisting of four subunits (SDHA, SDHB, SDHC and SDHD) has a dual function in the process of mitochondrial energy generation. It converts succinate to fumarate as part of the TCA cycle and also transfers electrons to ubiquinone as part of the electron transport chain. Mutation in any subunit of the enzyme complex increases the risk for the development of neuroendocrine tumors including paraganglioma (PGL) and pheochromocytoma (...