[Genetic diagnosis of phaeochromocytomas and paragangliomas]

Abstract

Up to 30% of phaeochromocytomas and paragangliomas occur in the context of inherited tumor syndromes. Familial history and clinical presentation have to be strongly detailed to guide genetic testing. The identification of a genetic predisposition in a patient with phaeochromocytoma or paraganglioma has a positive impact in terms of medical care and follow-up for the proband and allows genetic testing in apparently asymptomatic family members. Two clusters of genes are described depending on their implication in the pathogenesis of inherited tumors. An algorithm for the genetic diagnosis of phaeochromocytomas and paragangliomas is proposed by The French network of oncogenetic laboratories. These recommendations will probably change with the identification of new predisposition genes and the development of new sequencing technologies.Genetic testing is prescribed by a specialist, as part of a cancer genetics specialist consultation in endocrine tumors. The psychological support is essential throughout the family survey.