Endocrine Abstracts

Phaeochromocytoma is a rare, usually benign, tumour predominantly managed by endocrinologists. Over the last decade, major advances have been made in understanding the molecular genetic basis of adrenal and extra-adrenal phaeochromocytoma (also referred to as adrenal phaeochromocytoma (aPCA) and extra-adrenal functional paraganglioma (eFPGL)). In contrast to the previously held belief that only 10% of cases had a genetic component, currently about one third of all aPCA/eFPGL c...

The neural crest-derived, catecholamine-secreting tumors pheochromocytomas and paragangliomas are genetically heterogeneous. More than one-third of these tumors result from germline mutations in one of at least ten genes that belong to a variety of functional classes. Characterization of the molecular signals transduced by these genes and their respective mutants has enhanced our understanding of kinase signaling pathways, hypoxia regulation, and the link between metabolic dis...

The biochemical diagnosis of pheochromocytomas and extra-adrenal paragangliomas can be established by the measurement of plasma free metanephrines and 24 h urinary excretion of fractionated metanephrines. After establishing the biochemical diagnosis, tumours can be localized using different anatomical and functional imaging modalities. These include computed tomography, magnetic resonance imaging, single-photon emission computed tomography (SPECT) using [123I]-metai...

There is currently no curative treatment for metastatic phaeochromocytoma (PH) and paraganglioma (PG). Patient management aims at reducing tumor burden and preventing mechanical and secretory consequences of metastatic spread and must be adapted to disease progression. Focal treatments (surgery, radiofrequency ablation and embolization) reduce hypersecretion and facilitate subsequent systemic therapies using radionuclides (131I-MIBG, 177Lu- or 90Y-DOTATOC), chemotherapy (cyclo...