Compound Heterozygous Mutation With a Novel Splice Donor Region DNA Sequence Variant in the Succinate Dehydrogenase Subunit B Gene in Malignant Paraganglioma

Pheochromocytoma and paraganglioma (PGL) are rare neuroendocrine tumors in children. Apparently sporadic cases of PGL may harbor germline mutations in the succinate dehydrogenase (SDHx) gene. SDHB mutations are associated with malignant disease. We report a 13-year-old African American boy with diffusely metastatic PGL and compound heterozygous mutation leading to a novel splice donor region DNA sequence variant in the SDHB gene. Family history was positive for non-classical congenital adrenal hyperplasia and pituitary adenoma. After surgical resection of the primary PGL and chemotherapy, lie was treated with metaiodobenzylguanidine (MIBG) combined with arsenic trioxide. At 3-year follow-up, lie had stable disease. Pediatr Blood Cancer 2010;54:473-475. (C) 2009 Wiley-Liss, Inc.