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Compound heterozygous mutation with a novel splice donor region DNA sequence variant in the succinate dehydrogenase subunit B gene in malignant paraganglioma
Author(s) -
Majumdar Suvankar,
Friedrich Christopher A.,
Koch Christian A.,
Megason Gail C.,
Fratkin Jonathan D.,
Moll George W.
Publication year - 2010
Publication title -
pediatric blood and cancer
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.116
H-Index - 105
eISSN - 1545-5017
pISSN - 1545-5009
DOI - 10.1002/pbc.22338
Subject(s) - sdhb , paraganglioma , germline mutation , arsenic trioxide , pheochromocytoma , medicine , succinate dehydrogenase , mutation , cancer research , germline , sdhd , gene , fumarase , splice site mutation , compound heterozygosity , pathology , genetics , exon , biology , alternative splicing , apoptosis , mitochondrion
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, he was treated with metaiodobenzy lguanidine (MIBG) combined with arsenic trioxide. At 3‐year follow‐up, he had stable disease. Pediatr Blood Cancer 2010;54:473–475. © 2009 Wiley‐Liss, Inc.