Pheochromocytoma-paraganglioma type 5 syndrome associated with mutation in the succinate dehydrogenase type A complex (SDHA), a case report

Autor: Myriam Vanessa Rueda-Galvis, Alejandro Román-Gonzaléz, Valentina Agredo-Delgado
Jazyk: Spanish; Castilian
Rok vydání: 2023
Předmět:
Zdroj: Iatreia, Vol 36, Iss 1, Pp 128-136 (2023)
Druh dokumentu: article
ISSN: 0121-0793
2011-7965
DOI: 10.17533/udea.iatreia.187
Popis: Pheochromocytomas and paragangliomas are rare neuroendocrine neoplasms that can produce catecholamines, with an incidence of less than one case per million inhabitants. They are histologically benign and minimally different from their malignant counterparts. The most common mutation is in the succinate dehydrogenase (SDH) complex pathway, and one of the least reported is the SDH subunit A (SDHA) mutation. A case of a patient with pheochromocytoma and paraganglioma, associated with mutation in SDHA, its behavior and good clinical response to surgical management and active surveillance is described.
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