Succinate dehydrogenase subunit B (SDHB) gene deletion associated with a composite paraganglioma/neuroblastoma

Autor:	B Judd, Paul D. Losty, K L Greenhalgh, Eleanor Rattenberry, Eamonn R. Maher, Rajeev Shukla, Ruth Armstrong
Rok vydání:	2008
Předmět:	Somatic cell SDHB Protein subunit Succinate dehydrogenase Biology medicine.disease Germline Metastasis Paraganglioma Neuroblastoma Genetics medicine Cancer research biology.protein Genetics (clinical)
Zdroj:	Journal of Medical Genetics. 46:215-216
ISSN:	1468-6244 0022-2593
DOI:	10.1136/jmg.2008.060749
Popis:	We read with interest the recent report by Cascon et al 1 of three families with a germline SDHB deletion. In particular, we noted that in one family an SDHB deletion carrier was diagnosed with an adrenal neuroblastoma (with metastasis in five homolateral ganglia) at the age of 5 years. Cascon et al 1 also reported that both phaeochromocytomas and the neuroblastoma from people with the SDHB deletion showed 1p36 allele loss. This finding suggested a possible association between SDHB mutations and neuroblastoma susceptibility. However, germline or somatic SDHB mutations have not been described previously in neuroblastoma.2 3 Recently we detected an SDHB deletion in a 13-year-old girl with a composite paraganglioma/neuroblastoma. …
Databáze:	OpenAIRE
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