Compound heterozygous mutation with a novel splice donor region DNA sequence variant in the succinate dehydrogenase subunit B gene in malignant paraganglioma

Pediatric Blood & Cancer
Suvankar MajumdarGeorge W Moll

Abstract

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.

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Citations

Feb 9, 2011·Nature Reviews. Genetics·Ryan TewheyNicholas J Schork
Mar 10, 2010·Pediatric Blood & Cancer·Jean-Pierre Bayley
Sep 7, 2011·Nature Reviews. Endocrinology·Jörg SingerRalf Paschke
Oct 21, 2018·Reviews in Endocrine & Metabolic Disorders·Christian A Koch, S Petersenn
May 31, 2020·Genome Medicine·Ninad OakKuan-Lin Huang
Jun 9, 2020·Frontiers in Genetics·Dustin B Miller, Stephen R Piccolo

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