A Woman with Bilateral Pheochromocytoma and Tuberous Sclerosis Complex

Area of Science:

• Neuroendocrinology
• Oncology
• Genetics

Background:

• Pheochromocytoma and paraganglioma (PPGL) are rare neuroendocrine tumors originating from chromaffin cells.
• Tuberous sclerosis complex (TSC) is a genetic disorder that can predispose individuals to various tumors, including neuroendocrine neoplasms.
• Synchronous PPGL, the occurrence of both tumor types simultaneously, is exceptionally uncommon.

Observation:

• A 49-year-old female patient with a history of TSC and end-stage renal disease presented with asymptomatic bilateral adrenal and retroperitoneal masses.
• Elevated plasma normetanephrine and chromogranin A levels were detected, indicating active catecholamine production.
• Despite the absence of typical symptoms like palpitations or hypertension, diagnostic workup confirmed synchronous PPGL.

Findings:

• Surgical resection of the bilateral adrenal and retroperitoneal masses revealed pheochromocytoma and composite paraganglioma/ganglioneuroma.
• Postoperative normalization of plasma normetanephrine and significant improvement in chromogranin A levels confirmed successful treatment.
• This case represents a rare instance of synchronous PPGL in an asymptomatic individual with TSC.

Implications:

• This case underscores the necessity of vigilant screening for PPGL in patients with TSC, irrespective of symptomatic presentation.
• The findings suggest that genetic testing and comprehensive diagnostic workup are crucial for early detection and management of PPGL in syndromic patients.
• Optimal management involves surgical intervention following appropriate medical blockade for catecholamine excess.