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Integrated Genomic Analysis of Sézary Syndrome

Sézary syndrome (SS) is a rare variant of primary cutaneous T-cell lymphoma. Little is known about the underlying pathogenesis of S. To address this issue, we used Affymetrix 10K SNP microarray to analyse 13 DNA samples isolated from 8 SS patients and qPCR with ABI TaqMan SNP genotyping assays for t...

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Autores principales: Mao, Xin, Chaplin, Tracy, Young, Bryan D.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: SAGE-Hindawi Access to Research 2011
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3335609/
https://www.ncbi.nlm.nih.gov/pubmed/22567373
http://dx.doi.org/10.4061/2011/980150
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author Mao, Xin
Chaplin, Tracy
Young, Bryan D.
author_facet Mao, Xin
Chaplin, Tracy
Young, Bryan D.
author_sort Mao, Xin
collection PubMed
description Sézary syndrome (SS) is a rare variant of primary cutaneous T-cell lymphoma. Little is known about the underlying pathogenesis of S. To address this issue, we used Affymetrix 10K SNP microarray to analyse 13 DNA samples isolated from 8 SS patients and qPCR with ABI TaqMan SNP genotyping assays for the validation of the SNP microarray results. In addition, we tested the impact of SNP loss of heterozygosity (LOH) identified in SS cases on the gene expression profiles of SS cases detected with Affymetrix GeneChip U133A. The results showed: (1) frequent SNP copy number change and LOH involving 1, 2p, 3, 4q, 5q, 6, 7p, 8, 9, 10, 11, 12q, 13, 14, 16q, 17, and 20, (2) reduced SNP copy number at FAT gene (4q35) in 75% of SS cases, and (3) the separation of all SS cases from normal control samples by SNP LOH gene clusters at chromosome regions of 9q31q34, 10p11q26, and 13q11q12. These findings provide some intriguing information for our current understanding of the molecular pathogenesis of this tumour and suggest the possibility of presence of functional SNP LOH in SS tumour cells.
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spelling pubmed-33356092012-05-07 Integrated Genomic Analysis of Sézary Syndrome Mao, Xin Chaplin, Tracy Young, Bryan D. Genet Res Int Research Article Sézary syndrome (SS) is a rare variant of primary cutaneous T-cell lymphoma. Little is known about the underlying pathogenesis of S. To address this issue, we used Affymetrix 10K SNP microarray to analyse 13 DNA samples isolated from 8 SS patients and qPCR with ABI TaqMan SNP genotyping assays for the validation of the SNP microarray results. In addition, we tested the impact of SNP loss of heterozygosity (LOH) identified in SS cases on the gene expression profiles of SS cases detected with Affymetrix GeneChip U133A. The results showed: (1) frequent SNP copy number change and LOH involving 1, 2p, 3, 4q, 5q, 6, 7p, 8, 9, 10, 11, 12q, 13, 14, 16q, 17, and 20, (2) reduced SNP copy number at FAT gene (4q35) in 75% of SS cases, and (3) the separation of all SS cases from normal control samples by SNP LOH gene clusters at chromosome regions of 9q31q34, 10p11q26, and 13q11q12. These findings provide some intriguing information for our current understanding of the molecular pathogenesis of this tumour and suggest the possibility of presence of functional SNP LOH in SS tumour cells. SAGE-Hindawi Access to Research 2011 2011-11-24 /pmc/articles/PMC3335609/ /pubmed/22567373 http://dx.doi.org/10.4061/2011/980150 Text en Copyright © 2011 Xin Mao et al. https://creativecommons.org/licenses/by/3.0/ This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Research Article
Mao, Xin
Chaplin, Tracy
Young, Bryan D.
Integrated Genomic Analysis of Sézary Syndrome
title Integrated Genomic Analysis of Sézary Syndrome
title_full Integrated Genomic Analysis of Sézary Syndrome
title_fullStr Integrated Genomic Analysis of Sézary Syndrome
title_full_unstemmed Integrated Genomic Analysis of Sézary Syndrome
title_short Integrated Genomic Analysis of Sézary Syndrome
title_sort integrated genomic analysis of sézary syndrome
topic Research Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3335609/
https://www.ncbi.nlm.nih.gov/pubmed/22567373
http://dx.doi.org/10.4061/2011/980150
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