From the Guidelines
A paraganglioma is a rare tumor that develops from paraganglia, which are clusters of neuroendocrine cells found throughout the body, and can be associated with significant clinical morbidity related to mass effect, cranial nerve palsies, or hypertension/tachycardia resulting from catecholamine excess 1.
Key Characteristics of Paragangliomas
- Paragangliomas arise from neural crest tissue and are closely related to pheochromocytomas, which specifically occur in the adrenal glands.
- These tumors can develop anywhere paraganglia exist, commonly in the head, neck, chest, abdomen, or pelvis.
- About 20-40% of paragangliomas are hereditary, associated with genetic mutations in genes like SDHB, SDHD, and VHL 1.
Clinical Features and Diagnosis
- Paragangliomas may be functional (secreting hormones like catecholamines) or non-functional.
- Functional paragangliomas can cause symptoms like high blood pressure, headaches, sweating, and heart palpitations due to hormone release.
- The diagnosis of paraganglioma is based on molecular genetic testing, which should be offered to all patients with paraganglioma or pheochromocytoma, and screening tests such as measurement of circulating catecholamine metabolites 1.
Treatment and Management
- Treatment typically involves surgical removal when possible, with additional options including radiation therapy, embolization, or targeted medications depending on the tumor's location and behavior.
- Regular monitoring is essential as these tumors can recur or metastasize, particularly those with certain genetic mutations.
- Genetic testing is recommended for patients with paragangliomas to identify hereditary forms and guide screening for family members 1.
From the Research
Definition and Characteristics of Paraganglioma
- Paragangliomas are rare tumors that arise from extra-adrenal paraganglia 2
- They can be diagnosed in various clinical settings, including signs and symptoms related to catecholamine hypersecretion, mass effect symptoms, incidental finding on imaging, or family screening for hereditary paraganglioma 2
- Paragangliomas that hypersecrete catecholamines may cause signs and symptoms identical to those in patients with hyperfunctioning adrenal pheochromocytoma 2
Diagnosis and Treatment
- Biochemical documentation of catecholamine and fractionated metanephrine hypersecretion should precede any form of imaging study when a catecholamine-secreting tumor is suspected 2
- The treatment of choice for paraganglioma is surgical resection, and most tumors are benign and can be excised totally 2
- Combination chemotherapy with cyclophosphamide, vincristine, and dacarbazine (CVD) can be used for palliative treatment of malignant pheochromocytoma and paraganglioma 3, 4
- Metyrosine can be used as a therapeutic adjunct to decrease catecholamine production in select patients with pheochromocytoma and paraganglioma 5
Prognosis and Management
- As many as 50% of paragangliomas are hereditary and may be associated with familial paraganglioma, neurofibromatosis Type 1, von Hippel-Lindau disease, the Carney triad, and, rarely, with multiple endocrine neoplasia Type 2 2
- Genetic testing should be considered in all patients with paraganglioma 2
- Treatment of metastatic pheochromocytomas and paragangliomas is recommended based on the severity of symptoms, the progression of the disease, and the patient's performance status 6