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, he was treated with metaiodobenzy lguanidine (MIBG) combined with arsenic trioxide. At 3-year follow-up, he had stable disease.
Majumdar
Suvankar
S
Department of Pediatrics, University of Mississippi Medical Center, Jackson, MS 39216, USA. smajumdar@ped.umsmed.edu
Friedrich
Christopher A
CA
Koch
Christian A
CA
Megason
Gail C
GC
Fratkin
Jonathan D
JD
Moll
George W
GW
D000293:Adolescent; D001932:Brain Neoplasms / Q000201:enzymology / Q000235:genetics*; D004273:DNA, Neoplasm / Q000235:genetics*; D014644:Genetic Variation; D018095:Germ-Line Mutation; D006801:Humans; D008297:Male; D020125:Mutation, Missense; D010235:Paraganglioma / Q000201:enzymology / Q000235:genetics*; D010375:Pedigree; D022821:RNA Splice Sites; D013385:Succinate Dehydrogenase / Q000235:genetics*
D004273:DNA, Neoplasm; D022821:RNA Splice Sites; D013385:Succinate Dehydrogenase