| Paraganglioma, neuroblastoma, and a SDHB mutation: Resolution of a 30-year-old mystery. | |
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MedLine Citation:
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PMID: 20503330 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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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. |
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Authors:
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R Neil Schimke; Debra L Collins; Catherine A Stolle |
Publication Detail:
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Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't |
Journal Detail:
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Title: American journal of medical genetics. Part A Volume: 152A ISSN: 1552-4833 ISO Abbreviation: Am. J. Med. Genet. A Publication Date: 2010 Jun |
Date Detail:
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Created Date: 2010-05-26 Completed Date: 2010-08-30 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 101235741 Medline TA: Am J Med Genet A Country: United States |
Other Details:
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Languages: eng Pagination: 1531-5 Citation Subset: IM |
Copyright Information:
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(c) 2010 Wiley-Liss, Inc. |
Affiliation:
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Department of Medicine, Kansas University School of Medicine, Kansas City, Kansas 66160, USA. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Adult Carcinoma, Renal Cell / genetics Female Humans Kidney Neoplasms / genetics Male Middle Aged Mutation Neoplasms, Second Primary / genetics Neuroblastoma / diagnosis, genetics*, therapy Paraganglioma / diagnosis, genetics*, therapy Succinate Dehydrogenase / genetics* Young Adult |
| Chemical | |
Reg. No./Substance:
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EC 1.3.5.1/SDHB protein, human; EC 1.3.99.1/Succinate Dehydrogenase |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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