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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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Submitted August 21, 2008
Accepted December 23, 2008

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

Derville O'Shea*, Ciaran O'Riain, Manu Gupta, Rachel Waters, Youwen Yang, David Wrench, John Gribben, Andreas Rosenwald, German Ott, Lisa M. Rimsza, Harald Holte, Jean-Baptiste Cazier, Nathalie A. Johnson, Elias Campo, Wing C. Chan, Randy D. Gascoyne, Bryan D. Young, Louis M. Staudt, T. Andrew Lister, and Jude Fitzgibbon

Centre for Medical Oncology, Barts and the London School of Medicine, London, United Kingdom
Centre for Statistics in Medicine, Oxford University, Oxford, United Kingdom
Institute of Pathology, University of Wurzburg, Wurzburg, Germany
Department of Clinical Pathology, Robert-Bosch-Krankenhaus, Stuttgart, Germany
Department of Pathology, and Arizona Cancer Center, University of Arizona, Tucson, AZ, United States
Department of Oncology, Cancer Clinic Norwgian Radium Hospital, Oslo, Norway
Bioinformatics and Biostatistics, Cancer Research UK, London, United Kingdom
Department of Pathology and Division of Medical Oncology, British Columbia Cancer Agency, Vancouver, BC, Canada
Department of Pathology and Hospital Clinic, Institut d'Investigacions Biomediques August Pi i Sunyer (IDIBAPS), University of Barcelona, Barcelona, Spain
Department of Pathology and Microbiology, University of Nebraska Medical Center, Omaha, NE, United States
Metabolism Branch, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, MD, United States

* Corresponding author; email: derville.oshea{at}cancer.org.uk.

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 using 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 118/182 (65%) patients. Number of abnormalities was predictive of outcome; > 3 abnormalities was associated with inferior overall survival (OS) (p<0.03). 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 1p36 correlated with shorter OS (p=0.05). aUPD 16p was predictive of transformation (p=0.03) and correlated with poorer progression free survival (p=0.02). aUPD is frequent at diagnosis of FL and impacts on probability of disease transformation and clinical outcome.


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