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Blood, 5 March 2009, Vol. 113, No. 10, pp. 2298-2301.
Prepublished online as a Blood First Edition Paper on January 13, 2009; DOI 10.1182/blood-2008-08-174953.


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LYMPHOID NEOPLASIA

Brief report

Regions of acquired uniparental disomy at diagnosis of follicular lymphoma are associated with both overall survival and risk of transformation

Derville O'Shea1, Ciarán O'Riain1, Manu Gupta1, Rachel Waters2, Youwen Yang1, David Wrench1, John Gribben1, Andreas Rosenwald3, German Ott3,4, Lisa M. Rimsza5, Harald Holte6, Jean-Baptiste Cazier1,7, Nathalie A. Johnson8, Elias Campo9, Wing C. Chan10, Randy D. Gascoyne1, Bryan D. Young1, Louis M. Staudt11, T. Andrew Lister1, and Jude Fitzgibbon1

1 Centre for Medical Oncology, Barts and The London School of Medicine, London, United Kingdom; 2 Centre for Statistics in Medicine, Oxford University, Oxford, United Kingdom; 3 Institute of Pathology, University of Würzburg, Würzburg, Germany; 4 Department of Clinical Pathology, Robert-Bosch-Krankenhaus, Stuttgart, Germany; 5 Department of Pathology and Arizona Cancer Center, University of Arizona, Tucson; 6 Department of Oncology, Cancer Clinic Norwegian Radium Hospital, Rikshospitalet, Oslo, Norway; 7 Bioinformatics and Biostatistics, Cancer Research UK, London, United Kingdom; 8 Department of Pathology and Division of Medical Oncology, British Columbia Cancer Agency, Vancouver, BC; 9 Department of Pathology and Hospital Clinic, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), University of Barcelona, Barcelona, Spain; 10 Department of Pathology and Microbiology, University of Nebraska Medical Center, Omaha; and 11 Metabolism Branch, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, MD

Acquired homozygosity in the form of segmental acquired uniparental disomy (aUPD) has been described in follicular lymphoma (FL) and is usually due to mitotic recombination. SNP array analysis was performed with the use of the Affymetrix 10K 2.0 Gene-chip array on DNA from 185 diagnostic FL patients to assess the prognostic relevance of aUPD. Genetic abnormalities were detected in 118 (65%) of 182 patients. Number of abnormalities was predictive of outcome; more than 3 abnormalities was associated with inferior overall survival (OS; P < .03). Sites of recurrent aUPD were detected on 6p (n = 25), 16p (n = 22), 12q (n = 17), 1p36 (n = 14), 10q (n = 8), and 6q (n = 8). On multivariate analysis aUPD on 1p36 correlated with shorter OS (P = .05). aUPD on 16p was predictive of transformation (P = .03) and correlated with poorer progression-free survival (P = .02). aUPD is frequent at diagnosis of FL and affects probability of disease transformation and clinical outcome.


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