[Phaeochromocytoma and paraganglioma]

Area of Science:

• Endocrinology
• Oncology
• Genetics

Background:

• Phaeochromocytomas and paragangliomas (PPGL) are rare neuroendocrine tumors originating from the adrenal medulla or sympathetic/parasympathetic ganglia.
• These tumors frequently overproduce catecholamines, leading to hypertension and severe cardiovascular complications.

Purpose of the Study:

• To outline the diagnostic and therapeutic strategies for pheochromocytomas and paragangliomas.
• To emphasize the importance of genetic testing and long-term follow-up for PPGL patients.

Main Methods:

• Diagnosis relies on plasma/urine metanephrine measurements and imaging (conventional and nuclear medicine).
• Genetic testing is crucial, as approximately 40% of PPGL cases are linked to inherited syndromes.
• Surgical excision, following drug preparation, is the primary treatment, ideally performed in specialized centers.

Main Results:

• Normal metanephrine levels make catecholamine-producing PPGL highly unlikely.
• Tumor visualization is mandatory for PPGL diagnosis.
• Approximately 15% of cases may experience metastatic evolution or recurrence.

Conclusions:

• Early and accurate diagnosis of PPGL is essential for timely intervention.
• Genetic evaluation and specialized surgical management improve patient outcomes.
• Prolonged follow-up is necessary to monitor for recurrence or metastatic disease.