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Germline mutations and polymorphisms in the NFKBIA gene in Hodgkin lymphoma

✍ Scribed by Julie Osborne; Annette Lake; Freda E. Alexander; G. Malcolm Taylor; Ruth F. Jarrett

Publisher: John Wiley and Sons
Year: 2005
Tongue: French
Weight: 265 KB
Volume: 116
Category: Article
ISSN: 0020-7136
DOI: 10.1002/ijc.21036

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✦ Synopsis

Abstract

Somatic inactivation of NFKBIA, the gene encoding IκBα, is a frequent occurrence in the malignant Hodgkin and Reed‐Sternberg (HRS) cells of Hodgkin lymphoma (HL). Impairment of IκBα function results in deregulated NF‐κB activity, a characteristic of HRS cells. The molecular basis for familial HL, which accounts for approximately 4% of all HL cases, is unclear. To date, familial HL cases have not been evaluated for germline NFKBIA mutations. We screened the entire NFKBIA gene in 8 individuals with familial HL but found no mutations in the coding region or promoter sequences. We identified the first germline NFKBIA missense mutation in a patient with presumed sporadic HL. The frequency of 4 polymorphisms within the NFKBIA gene and promoter region was investigated in a series of HL and control samples; no significant differences emerged but a novel polymorphism was identified in the promoter region. Overall, our results suggest that germline mutations of NFKBIA are not a significant cause of familial aggregation of HL but may contribute to inherited susceptibility to HL. © 2005 Wiley‐Liss, Inc.

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