Keywords
Pheochromocytoma
Neuroendocrine tumor
Catecholamines
Endocrine hypertension
Succinate dehydrogenase
How to Cite
Abstract
Introduction: Catecholamine-producing tumors are the most heritable (40%) solid neoplasms, rare, with a prevalence of less than 0.05% in the general population. They are clinically heterogeneous, mostly asymptomatic and studied as incidentalomas or during the follow-up of other pathologies.
Objective: There are few reported cases of symptomatic catecholamine-producing tumors in our region, mainly hereditary paragangliomas. Therefore, the objective of this case report is to describe the diagnostic and therapeutic approach conducted at a tertiary center in the city of Barranquilla.
Case presentation: We describe the case of a woman in her third decade of life with secondary arterial hypertension related to a functional posterior mediastinal paraganglioma. Successful surgical resection was performed, and pathology examination confirmed origin from chromaffin cells of the sympathetic ganglion. Genetic analysis identified a heterozygous mutation in the Succinate Dehydrogenase Subunit B gene, variant c166_170del, with pathogenic significance, leading to the conclusion of familial paraganglioma type 4.
Discussion and conclusion: This article discusses the definition, clinical presentation, diagnosis, treatment, and prognosis of catecholamine-secreting tumors. It presents a clinical case of type 4 paraganglioma, diagnostic tests, imaging, and clinical approach.
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