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Genetics Research International
Volume 2011, Article ID 980150, 13 pages
Research Article

Integrated Genomic Analysis of Sézary Syndrome

1Centre for Cutaneous Research, Institute of Cell and Molecular Sciences, Barts and The London School of Medicine and Dentistry, London E1 2AT, UK
2Division of Investigative Science, Department of Histopathology, Faculty of Medicine, Imperial College, Hammersmith Hospital, Du cane Road, London W12 0NN, UK
3Cancer Research UK Medical Oncology Centre, Barts and The London School of Medicine and Dentistry, Queen Mary College, Queen Mary University of London, London EC1M 6BQ, UK

Received 16 April 2011; Revised 7 August 2011; Accepted 29 August 2011

Academic Editor: Ilana Zalcberg Renault

Copyright © 2011 Xin Mao et al. 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.


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.