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Blood, 15 June 2008, Vol. 111, No. 12, pp. 5691-5693. Prepublished online as a Blood First Edition Paper on April 18, 2008; DOI 10.1182/blood-2008-03-142349. This Article Full Text (PDF) All Versions of this Article: blood-2008-03-142349v1 111/12/5691    most recent Alert me when this article is cited Alert me if a correction is posted 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 Crowther, D. Articles by Houlston, R. S Search for Related Content PubMed PubMed Citation Articles by Crowther, D. Articles by Houlston, R. S Social Bookmarking                   What's this?  Previous Article  |  Next Article  Submitted March 11, 2008 Accepted March 21, 2008 Insight into the pathogenesis of chronic lymphocytic leukemia (CLL) through analysis of IgVH gene usage and mutation status in familial CLL Dalemari Crowther, Ruth Wild, Gabrielle Sellick, Martin J. S. Dyer, Francesca R Mauro, Robert J.G Cuthbert, Viggo Jonsson, Estella Matutes, Claire Dearden, James Wiley, Stephen Fuller, Daniel Catovsky, and Richard S Houlston* Section of Cancer Genetics, Institute of Cancer Research, Sutton, United Kingdom MRC toxicology Unit, Leicester University, Leicester, United Kingdom Division of Hematology, Dipartmento di Biotechnologie Cellulari ed Ematologia, University "La Sapienza", Rome, Italy Department of Haematology, Belfast City Hospital, Belfast, United Kingdom Department of Haematology, Aker University Hospital, University of Oslo, Oslo Royal Marsden Hospital, Sutton, United Kingdom Department of Medicine, Sydney University, Nepean Hospital, Penrith, Australia Section of Haemato-Oncology, Institute of Cancer Research, Sutton, United Kingdom Section of Cancer Genetics, Insitute of Cancer Research, Sutton, United Kingdom * Corresponding author; email: richard.houlston{at}icr.ac.uk. To address the proposition that familial B-cell chronic lymphocytic leukemia (CLL) may exhibit a more restricted phenotype than sporadic CLL with respect to immunoglobulin gene usage or ontogenic development we compared immunoglobulin (Ig) heavy chain variable region (VH) gene usage and IgVH mutation status in 327 cases of CLL from 214 families, with 724 sporadic cases. The frequency of mutated CLL was higher in familial CLL (P<0.001) and there was evidence of intra-familial concordance in mutation status (P<0.001). The repertoire and frequency of IgVH usage was, however, not significantly different between familial and sporadic CLL. Furthermore, IgVH usage was not correlated between affected members of the same family. These observations provide evidence that familial CLL is essentially indistinguishable from sporadic CLL favoring a genetic basis to disease development in general rather than a simple environmental etiology. CiteULike    Connotea    Del.icio.us    Digg    Reddit    Technorati    What's this? This article has been cited by other articles: D. Crowther-Swanepoel and R. S. Houlston The molecular basis of familial chronic lymphocytic leukemia Haematologica, May 1, 2009; 94(5): 606 - 609. [Full Text] [PDF] J. R Brown, L. Rassenti, D. Neuberg, A. Greaves, J. C. Byrd, M. R Grever, J. G. Gribben, N. E. Kay, M. Keating, K. R. Rai, et al. Characteristics of Familial CLL Evaluated in the CLL Research Consortium Cohort Blood (ASH Annual Meeting Abstracts), November 16, 2008; 112(11): 3125 - 3125. [Abstract]

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