[Genetics of pheochromocytoma]

Area of Science:

• Endocrinology
• Genetics
• Oncology

Background:

• Approximately one-third of pheochromocytoma patients harbor germline mutations in known susceptibility genes.
• These mutations predispose individuals to specific hereditary tumor syndromes, including MEN2, VHL disease, and various paraganglioma syndromes.

Purpose of the Study:

• To highlight the significance of germline mutations in pheochromocytoma.
• To emphasize the importance of molecular genetic screening for diagnosis and personalized management.

Main Methods:

• Review of known pheochromocytoma susceptibility genes and associated tumor syndromes.
• Discussion of clinical implications, including lifelong risks and extraparaganglial tumors.

Main Results:

• Identified 10 susceptibility genes linked to pheochromocytoma, including RET, VHL, SDH genes, NF1, TMEM127, and MAX.
• Detailed the spectrum of associated hereditary tumor syndromes and their characteristic extraparaganglial manifestations.
• Highlighted the lifelong risk of pheochromocytoma relapse and other cancers in affected individuals.

Conclusions:

• Molecular genetic screening is essential for diagnosing pheochromocytoma-associated cancer syndromes.
• Screening facilitates lifelong preventive medicine strategies for patients and their families.
• Early diagnosis and classification enable tailored surveillance and management of hereditary pheochromocytoma.