Work

Pathogenic MAX Variant in Bilateral Adrenal Paragangliomas: The Dilemma of Cortical-Sparing Surgery

Year: 2025

Type: article

Abstract: We describe the case of a woman in her late 30s presenting with signs and symptoms of catecholamine excess and asymmetric bilateral adrenal lesions. Initial genetic testing was negative, including analysis of RET, VHL, SDH genes, TMEM127, and MAX. She underwent right cortical-sparing adrenalectomy, which normalized biochemical markers and blood pressure. One year later, she developed recurrent catecholamine excess, and repeat genetic analysis identified a germline pathogenic variant in MAX. Functional imaging confirmed a contralateral adrenal lesion, raising considerations regarding oncological safety versus adrenal preservation. This case highlights the complexity of hereditary pheochromocytoma/paraganglioma syndromes and illustrates how evolving genetic testing can influence surgical decision-making.

Source: Cureus

DOI: 10.7759/cureus.97541

Authors: Henrique Carmona Alexandrino, Andreia Martins Fernandes, Ricardo Godinho, Noémia Castelo Branco, Raquel Martins

Institutions: Unidade Local de Saúde Gaia/Espinho, Instituto Português de Oncologia de Coimbra Francisco Gentil

Language: English

Topic: Adrenal and Paraganglionic Tumors

Subfield: Surgery

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: diamond

OpenAlex ID: W7106481971