Abstract
A subset of B cell chronic lymphocytic leukaemia (CLL) is familial. Lack of large families makes it attractive to exploit methods in addition to genetic linkage analysis for the identification of a susceptibility locus. One strategy that can localise regions of the genome that may harbour tumour suppressor genes is to identify regions of chromosomal imbalance using comparative genomic hybridisation (CGH) analysis. We examined 24 familial CLL cases by CGH analysis. Losses that are documented as arising frequently in sporadic CLL were observed at a comparable frequency in familial CLL. However, gains and losses in two regions of the X chromosome – Xp11.2-p21 and Xq21-qter – appear more common in familial CLL than in sporadic CLL. This suggests these regions may harbour a susceptibility locus for CLL. There is also some evidence that chromosome regions 2p12-p14 and 4q11-q21 may harbour predisposition genes.
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Acknowledgements
We thank the patients who participated in this study and their clinicians: MJ Auger (King's Mill Hospital, Sutton-in-Ashfield, UK); S Benjamin (Oxford Radcliffe Hospital, Oxford, UK); ME Cabrera (Hospital del Salvador, Santiago, Chile); JA Copplestone (Derriford Hospital, Plymouth, UK); ZR Desai (Belfast City Hospital, Belfast, Northern Ireland); AG Eden (Southend General Hospital, Westcliff-on-Sea, UK); S Fairhead (Chase Farm Hospital, Enfield, UK); S Rassam (Queen Mary's Hospital, Sidcup, UK); K Quabeck (Fachärzte für Innere Medizin, Duisburg, Germany); C Shustik (Royal Victoria Hospital, Montreal, Canada); P Stark (Rabin Medical Centre, Petah-Tiqva, Israel); P Stross (St Richard's Hospital, Chichester, UK); H Sykes (Kingston Hospital, Kingston upon Thames, UK). We also thank Julie Fuller, Andrea Marossy and Yong-Jie Lu for their assistance and the Leukaemia Research Fund for support.
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Summersgill, B., Thornton, P., Atkinson, S. et al. Chromosomal imbalances in familial chronic lymphocytic leukaemia: a comparative genomic hybridisation analysis. Leukemia 16, 1229–1232 (2002). https://doi.org/10.1038/sj.leu.2402321
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DOI: https://doi.org/10.1038/sj.leu.2402321
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