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Prof Karel Pacak, USA 17 November 2018

Pheochromocytomas (PHEOs) are chromaffin – neural crest cell tumors characterized by catecholamine production and catecholamine metabolites (metanephrines/methoxytyramine) secretion.
About 23 genes are involved in the pathogenesis of PHEO. Nearly 27-35% are inherited (germline mutations), 30-39% have somatic mutations. About 7% have fusion genes.
All patients with a catecholamine producing PHEO must receive / adrenoceptor blockade. Metanephrines are a gold standard in the biochemical diagnosis of PHEO. Metanephrines are produced and released continuously independent of pulsatile catecholamine secretion.
Catecholamines cannot be used for PHEOs <7-10 mm. About 30% of PHEOs do not secrete catecholamines. Additionally, some PHEOs produce only dopamine which is not usually measured.
Clonidine test distinguishes increased sympathetic activity (false-positives) from PHEO (true-positives).
Methoxytyramine, tumor size and succinate dehydrogenase subunit B (SDHB) are independent predictors of metastatic PHEO. 68Ga-DOTATATE PET/CT has a better performance in patients with PHEOs as compared to other imaging modalities. Metabologenomics has a potential role in PHEO diagnosis and treatment.
Hypoxia-inducible factor (HIF) signaling seems to play an important role in the development of PHEOs and paragangliomas (PGLs), thus suggesting novel therapeutic approaches for the treatment of these tumors. Precision medicine seems to have a potential role in the management of PHEOs.

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