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 |
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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. |
Databáze: | Directory of Open Access Journals |
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