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Blood, 1 February 2007, Vol. 109, No. 3, pp. 1202-1210. Prepublished online as a Blood First Edition Paper on October 19, 2006; DOI 10.1182/blood-2006-07-034256. This Article Full Text Full Text (PDF) Supplemental Table All Versions of this Article: blood-2006-07-034256v1 109/3/1202    most recent Alert me when this article is cited Alert me if a correction is posted Citation Map Services Email this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Download to citation manager Rights and Permissions Citing Articles Citing Articles via HighWire Citing Articles via CrossRef Citing Articles via Google Scholar Google Scholar Articles by Pfeifer, D. Articles by Veelken, H. Search for Related Content PubMed PubMed Citation Articles by Pfeifer, D. Articles by Veelken, H. Related Collections Gene Expression Genomics Neoplasia Social Bookmarking                   What's this?  Previous Article  |  Table of Contents  |  Next Article  NEOPLASIA Genome-wide analysis of DNA copy number changes and LOH in CLL using high-density SNP arrays Dietmar Pfeifer1, Milena Pantic1, Ilona Skatulla1, Justyna Rawluk1, Clemens Kreutz3, Uwe M. Martens1, Paul Fisch2, Jens Timmer3, and Hendrik Veelken1 1 Departments of Hematology/Oncology and 2 Pathology, Freiburg University Medical Center, Freiburg, Germany; and 3 Freiburg Center for Data Analysis and Modeling, University of Freiburg, Freiburg, Germany Recurrent genomic aberrations are important prognostic parameters in chronic lymphocytic leukemia (CLL). High-resolution 10k and 50k Affymetrix SNP arrays were evaluated as a diagnostic tool for CLL and revealed chromosomal imbalances in 65.6% and 81.5% of 70 consecutive cases, respectively. Among the prognostically important aberrations, the del13q14 was present in 36 (51.4%), trisomy 12 in 9 (12.8%), del11q22 in 9 (12.8%), and del17p13 in 4 cases (5.7%). A prominent clustering of breakpoints on both sides of the MIRN15A/MIRN16-1 genes indicated the presence of recombination hot spots in the 13q14 region. Patients with a monoallelic del13q14 had slower lymphocyte growth kinetics (P = .002) than patients with biallelic deletions. In 4 CLL cases with unmutated VH genes, a common minimal 3.5-Mb gain of 2p16 spanning the REL and BCL11A oncogenes was identified, implicating these genes in the pathogenesis of CLL. Twenty-four large (> 10 Mb) copy-neutral regions with loss of heterozygosity were identified in 14 cases. These regions with loss of heterozygosity are not detectable by alternative methods and may harbor novel imprinted genes or loss-of-function alleles that may be important for the pathogenesis of CLL. Genomic profiling with SNP arrays is a convenient and efficient screening method for simultaneous genome-wide detection of chromosomal aberrations. CiteULike    Connotea    Del.icio.us    Digg    Reddit    Technorati    What's this? This article has been cited by other articles: L. Wang, C. Fidler, N. Nadig, A. Giagounidis, M. G. Della Porta, L. Malcovati, S. Killick, N. Gattermann, C. Aul, J. Boultwood, et al. Genome-wide analysis of copy number changes and loss of heterozygosity in myelodysplastic syndrome with del(5q) using high-density single nucleotide polymorphism arrays Haematologica, July 1, 2008; 93(7): 994 - 1000. [Abstract] [Full Text] [PDF] B. I. Ferreira, J. F. Garcia, J. Suela, M. Mollejo, F. I. Camacho, A. Carro, S. Montes, M. A. Piris, and J. C. Cigudosa Comparative genome profiling across subtypes of low-grade B-cell lymphoma identifies type-specific and common aberrations that target genes with a role in B-cell neoplasia Haematologica, May 1, 2008; 93(5): 670 - 679. [Abstract] [Full Text] [PDF] P. Ouillette, H. Erba, L. Kujawski, M. Kaminski, K. Shedden, and S. N. Malek Integrated Genomic Profiling of Chronic Lymphocytic Leukemia Identifies Subtypes of Deletion 13q14 Cancer Res., February 15, 2008; 68(4): 1012 - 1021. [Abstract] [Full Text] [PDF] L. P. Gondek, R. Tiu, C. L. O'Keefe, M. A. Sekeres, K. S. Theil, and J. P. Maciejewski Chromosomal lesions and uniparental disomy detected by SNP arrays in MDS, MDS/MPD, and MDS-derived AML Blood, February 1, 2008; 111(3): 1534 - 1542. [Abstract] [Full Text] [PDF] C. Saddler, P. Ouillette, L. Kujawski, S. Shangary, M. Talpaz, M. Kaminski, H. Erba, K. Shedden, S. Wang, and S. N. Malek Comprehensive biomarker and genomic analysis identifies p53 status as the major determinant of response to MDM2 inhibitors in chronic lymphocytic leukemia Blood, February 1, 2008; 111(3): 1584 - 1593. [Abstract] [Full Text] [PDF] A. Mohamedali, J. Gaken, N. A. Twine, W. Ingram, N. Westwood, N. C. Lea, J. Hayden, N. Donaldson, C. Aul, N. Gattermann, et al. Prevalence and prognostic significance of allelic imbalance by single-nucleotide polymorphism analysis in low-risk myelodysplastic syndromes Blood, November 1, 2007; 110(9): 3365 - 3373. [Abstract] [Full Text] [PDF] S. Stilgenbauer, S. Sander, L. Bullinger, A. Benner, E. Leupolt, D. Winkler, A. Krober, D. Kienle, P. Lichter, and H. Dohner Clonal evolution in chronic lymphocytic leukemia: acquisition of high-risk genomic aberrations associated with unmutated VH, resistance to therapy, and short survival Haematologica, September 1, 2007; 92(9): 1242 - 1245. [Abstract] [Full Text] [PDF] E. S. Raveche, E. Salerno, B. J. Scaglione, V. Manohar, F. Abbasi, Y.-C. Lin, T. Fredrickson, P. Landgraf, S. Ramachandra, K. Huppi, et al. Abnormal microRNA-16 locus with synteny to human 13q14 linked to CLL in NZB mice Blood, June 15, 2007; 109(12): 5079 - 5086. [Abstract] [Full Text] [PDF]

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