NDLI: Paraganglioma, neuroblastoma, and a SDHB mutation: Resolution of a 30-year-old mystery.

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Paraganglioma, neuroblastoma, and a SDHB mutation: Resolution of a 30-year-old mystery.

Content Provider	World Health Organization (WHO)-Global Index Medicus
Author	Schimke, R. Neil Collins, Debra L. Stolle, Catherine A.
Description	Country affiliation: United States Author Affiliation: Schimke RN ( Department of Medicine, Kansas University School of Medicine, Kansas City, Kansas 66160, USA.)
Abstract	Familial paraganglioma/pheochromocytoma (PGL/PCC) is genetically heterogenous with mutations in three of the four subunits of the heterotetrameric mitochondrial complex II enzyme succinate dehydrogenase (SDH) being causally responsible for the majority of cases. In addition to PGL/PCC an array of non-paraganglial tumors have been described in affected individuals. We present a 30-year follow-up on the family of a deceased patient who synchronously developed malignant neuroblastoma (NBL), PCC, and renal cell carcinoma (RCC). Other family members with late onset disease have come to our attention, and molecular study revealed a mutation in the SDHB gene. Despite the embryologic relationship, NBL has been seen in only two previous patients with familial PGL/PCC, both with deletions of the SDHB gene. Review of the literature suggests the lack of a reported association between NBL and familial PGL/PCC may be an ascertainment bias. We further suggest that study of the SDH genes in NBL survivors who develop secondary solid tumors, particularly RCC, may correct this bias, and provide for more effective and comprehensive tumor screening in this patient population.
File Format	HTM / HTML
ISSN	15524825
Issue Number	6
Volume Number	152A
e-ISSN	15524833
Journal	American Journal of Medical Genetics Part A
Language	English
Publisher	Wiley-Blackwell
Publisher Date	2010-06-01
Publisher Place	United States
Access Restriction	One Nation One Subscription (ONOS)
Subject Keyword	Discipline Human Discipline Genetics Neuroblastoma Genetics Paraganglioma Succinate Dehydrogenase Adult Carcinoma, Renal Cell Female Humans Kidney Neoplasms Male Middle Aged Mutation Neoplasms, Second Primary Diagnosis Therapy Young Adult Case Reports Journal Article Research Support, Non-u.s. Gov't
Content Type	Text
Resource Type	Article Case study
Subject	Genetics Genetics (clinical)

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