Abstract

VASCONCELOS-PRADO, Oliver Daniel; LOPEZ-GARCIA, Alma Edith  and  GARCIA-MONTALVO, Iván Antonio. Genetic aspects of Pheocromocytomas and Paragangliomas. JONNPR [online]. 2021, vol.6, n.4, pp.636-650.  Epub Nov 13, 2023. ISSN 2529-850X.  https://dx.doi.org/10.19230/jonnpr.4020.

Pheochromocytomas (FCC) and Paragangliomas (PGG) are tumors derived from neural crest cells, which secrete catecholamines. 80-85% of FCCs derive from the adrenal medulla, while 15-20% from extraadrenal chromaffin tissue. Advances in genetic research have made it possible to identify multiple genes involved in the physiopathogenesis of these tumors, such that they could have an underlying germline mutation. The existence of spontaneous mutations, low penetrance, maternal protection and interactions between genes or with the environment can partly explain this fact. The existence of a mutation in an affected patient must be confirmed before offering a genetic study to their asymptomatic relatives. The clinician must consider several factors such as: tumor location, hormonal production, malignancy, multicentricity, and family history before deciding which mutation should be studied first. An early diagnosis of these tumors, accompanied by a correct genetic diagnosis, should be a priority that allows better treatment, the early detection of complications, a correct screening of relatives and other related tumors, as well as an improvement in the overall prognosis of these patients. Providing knowledge of new genes that cause hereditary disease has led to a change in the recommendations regarding the need for a genetic study to provide the appropriate treatment in time.

Keywords : Pheochromocytoma; Paragangliomas; Genes; Tumors.

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