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image/svg+xml Jakob Voss, based on art designer at PLoS, modified by Wikipedia users Nina and Beao Closed Access logo, derived from PLoS Open Access logo. This version with transparent background. http://commons.wikimedia.org/wiki/File:Closed_Access_logo_transparent.svg Jakob Voss, based on art designer at PLoS, modified by Wikipedia users Nina and Beao American Journal of ...arrow_drop_down
image/svg+xml Jakob Voss, based on art designer at PLoS, modified by Wikipedia users Nina and Beao Closed Access logo, derived from PLoS Open Access logo. This version with transparent background. http://commons.wikimedia.org/wiki/File:Closed_Access_logo_transparent.svg Jakob Voss, based on art designer at PLoS, modified by Wikipedia users Nina and Beao
American Journal of Hematology
Article . 2013 . Peer-reviewed
License: Wiley Online Library User Agreement
Data sources: Crossref
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Genome wide SNP array identified multiple mechanisms of genetic changes in Waldenstrom macroglobulinemia

Authors: Claude Preudhomme; Xavier Leleu; Patrick Duthilleul; Agnès Daudignon; Charles Herbaux; Salomon Manier; Sylvie Galiègue-Zouitina; +12 Authors

Genome wide SNP array identified multiple mechanisms of genetic changes in Waldenstrom macroglobulinemia

Abstract

SNP array (SNPa) was developed to detect copy number alteration (CNA) and loss of heterozygosity (LOH) without copy number changes, CN‐LOH. We aimed to identify novel genomic aberrations using SNPa in 31 WM with paired samples. Methylation status and mutation were analyzed on target genes. A total of 61 genetic aberrations were observed, 58 CNA (33 gains, 25 losses) in 58% of patients and CN‐LOH in 6% of patients. The CNA were widely distributed throughout the genome, including 12 recurrent regions and identified new cryptic clonal chromosomal lesions that were mapped. Gene set expression analysis demonstrated a relationship between either deletion 6q or gain of chromosome 4 and alteration of gene expression profiling. We then studied methylation status and sought for mutations in altered regions on target genes. We observed methylation of DLEU7 on chromosome 13 in all patients (n = 12) with WM, and mutations of CD79B/CD79A genes (17q region), a key component of the BCR pathway, in 15% of cases. Most importantly, higher frequency of ≥3 CNA was observed in symptomatic WM. In conclusion, this study expands the view of the genomic complexity of WM, especially in symptomatic WM, including a potentially new mechanism of gene dysfunction, acquired uniparental disomy/CN‐LOH. Finally, we have identified new potential target genes in WM, such as DLEU7 and CD79A/B. Am. J. Heamtol. 88:948–954, 2013. © 2013 Wiley Periodicals, Inc.

Keywords

Adult, Aged, 80 and over, Chromosome Aberrations, Male, DNA Copy Number Variations, Loss of Heterozygosity, DNA Methylation, Middle Aged, Neoplasm Proteins, Cohort Studies, Gene Expression Regulation, Chromosome Duplication, Mutation, Humans, Female, France, Chromosome Deletion, CD79 Antigens, Aged, Genome-Wide Association Study

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citations
This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Citations provided by BIP!
popularity
This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
BIP!Popularity provided by BIP!
influence
This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Influence provided by BIP!
impulse
This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.
BIP!Impulse provided by BIP!
43
Top 10%
Top 10%
Top 10%