Succinate Dehydrogenase Mutations as Familial Pheochromocytoma Syndromes

It is recognized that a large portion of pheochromocytoma and paraganglioma cases will have an underlying germline mutation, supporting the recommendation for universal genetic testing in all patients with PPGLs. A mutation in succinate dehydrogenase subunit B is associated with increased rates of developing synchronous and/or metachronous metastatic disease. Patients identified with this mutation require meticulous preoperative evaluation, a personalized surgical plan to minimize the risk of recurrence and tumor spread, and lifelong surveillance.

Source: Surgical Oncology Clinics of North America - March 15, 2023 Category: Surgery Authors: Michael S. Lui, Uriel Clemente-Gutierrez, Catherine M. Skefos, Nancy D. Perrier Source Type: research