Robot-Assisted Surgery and Multigene Panel Testing for Pheochromocytoma and Paraganglioma Syndrome

Pheochromocytoma and paraganglioma are often associated with hereditary syndromes, particularly those involving genes such as RET, which is linked to multiple endocrine neoplasia type 2A. Genetic testing plays a crucial role in diagnosing these conditions, guiding treatment strategies, and providing early intervention options for the affected families. A 57-year-old man presenting with back pain was found to have a left adrenal tumor and a retroperitoneal tumor near the left renal hilum. Hormonal studies and imaging confirmed the diagnosis of pheochromocytoma and paraganglioma. The patient underwent robot-assisted laparoscopic surgery to remove the tumors. Postoperative multigene panel testing identified a mutation in RET c.1901G > T (p.Cys634Phe) leading to the diagnosis of multiple endocrine neoplasia type 2A. Despite this genetic finding, no other endocrine tumors, such as medullary thyroid cancer or hyperparathyroidism, were detected at the time of diagnosis. The patient remains under close surveillance for the potential development of associated conditions. This case highlights the importance of comprehensive genetic testing in patients with pheochromocytoma and paraganglioma, particularly when hereditary syndromes are suspected. Genetic insights ensure precise management, allowing for tailored treatment and improved outcomes in patients with hereditary pheochromocytoma and paraganglioma.