The utility of genetic testing for pheochromocytoma and paraganglioma

Pheochromocytoma and paragangliomas are unique neuroendocrine tumors that can be a significant source of morbidity and mortality. It was previously thought that these tumors were largely sporadic. There is a paucity of literature to support routine genetic testing. The aim of this study was to determine the utility of preoperative genetic testing for these tumors.

This study was a retrospective review of all patients >18 years of age with a diagnosis of a pheochromocytoma or paraganglioma who were evaluated in our surgical oncology clinic from January 1, 2014, through January 1, 2025. Basic demographic data, along with genetic testing, recurrence, and final pathology findings, were collected.

A total of 48 patients were reviewed, with 21 patients completing genetic testing. Fourteen patients (66.6%) were found to have negative genetic testing, while 7 patients (33.3%) had positive genetic testing. There was no difference in age, race, or sex of the patients with positive and negative genetic testing. There was no difference in recurrence (P = 1.0) or findings of metastasis (P = 1.0) on final pathology between patients with positive versus negative genetic testing.

Given the high rate of genetic mutations found in this study, we recommend that all patients with pheochromocytomas and paragangliomas undergo genetic testing.