Metastatic paraganglioma of the spine associated with autosomal dominant hereditary paraganglioma-pheochromocytoma syndrome

Abstract

Introduction: Metastatic spinal paraganglioma (MSPGL) is an extremely rare clinical entity with only 90 cases reported in the current literature. Genetic testing is recommended for all patients with PGLs and their first-degree relatives as distinctive familial syndromes may be identified in 20–40% of the cases and are strong predictors for metastatic PGL. A diagnosis of hereditary paraganglioma-pheochromocytoma syndrome (PGL/PCC) is strongly suspected in an individual with multiple, multifocal, recurrent, or early onset paraganglioma or pheochromocytoma and/or a family history of paraganglioma or pheochromocytoma. Diagnosis of PGL /PCC syndrome is established in a proband by identification of a germline heterozygous pathogenic variant in MAX, SDHA, SDHAF2, SDHB, SDHC, SDHD, or TMEM127 on molecular genetic testing. Surgical total en bloc resection is the foundational treatment for MSPGL as it has been shown to improve overall survival in cases of synchronous metastatic PGL. Radiation and chemotherapy are reserved for unresectable disease or widely metastatic disease. Metastatic disease has a 5-year overall survival of 60%.

Keywords

• Metastatic
• Spine
• Paraganglioma
• Genetic