Insight into the pathogenesis of chronic lymphocytic leukemia (CLL) through analysis of IgVH gene usage and mutation status in familial CLL |
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| Authors: | Crowther-Swanepoel Dalemari Wild Ruth Sellick Gabrielle Dyer Martin J S Mauro Francesca R Cuthbert Robert J G Jonsson Viggo Matutes Estella Dearden Claire Wiley James Fuller Stephen Catovsky Daniel Houlston Richard S |
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| Institution: | 1 Section of Cancer Genetics, Institute of Cancer Research, Sutton, United Kingdom; 2 Medical Research Council (MRC) Toxicology Unit, Leicester University, Leicester, United Kingdom; 3 Division of Hematology, Dipartimento di Biotecnologie Cellulari ed Ematologia, University La Sapienza, Rome, Italy; 4 Department of Haematology, Belfast City Hospital, Belfast, United Kingdom; 5 Department of Haematology, Aker University Hospital, University of Oslo, Oslo, Norway; 6 Royal Marsden Hospital, Sutton, United Kingdom; 7 Department of Medicine, Sydney University, Nepean Hospital, Penrith, Australia; and 8 Section of Haemato-Oncology, Institute of Cancer Research, Sutton, United Kingdom |
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| Abstract: | 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 patients with CLL from 214 families with 724 patients with sporadic cases. The frequency of mutated CLL was higher in familial CLL (P < .001), and there was evidence of intrafamilial concordance in mutation status (P < .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. |
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