Inherited predisposition to CLL is detectable as subclinical monoclonal B-lymphocyte expansion

Martin Yuille, Andy C. Rawstron, Martin R. Yuille, Julie Fuller, Matthew Cullen, Ben Kennedy, Stephen J. Richards, Andrew S. Jack, Estella Matutes, Daniel Catovsky, Peter Hillmen, Richard S. Houlston

    Research output: Contribution to journalArticlepeer-review


    Monoclonal chronic lymphocytic leukemia (CLL)-phenotype cells are detectable in 3.5% of otherwise healthy persons using flow cytometric analysis of CDS/CD20/CD79b expression on CD19-gated B cells. To determine whether detection of such CLL-phenotype cells is indicative of an inherited predisposition, we examined 59 healthy, first-degree relatives of patients from 21 families with CLL. CLL-phenotype cells were detected in 8 of 59 (13.5%) relatives, representing a highly significant increase in risk (P = .00002). CLL-phenotype cell levels were stable with time and had the characteristics of indolent CLL. Indolent and aggressive clinical forms were found in family members, suggesting that initiation and proliferation involves distinct factors. The detection of CLL-phenotype cells provides a surrogate marker of carrier status, potentially facilitating gene identification through mapping in families and direct analysis of isolated CLL-phenotype cells. © 2002 by The American Society of Hematology.
    Original languageEnglish
    Pages (from-to)2289-2291
    Number of pages2
    Issue number7
    Publication statusPublished - 1 Oct 2002


    • Adult
    • Aged
    • Aged,80 and over
    • Antigens,CD
    • B-Lymphocytes
    • epidemiology
    • Family
    • Female
    • Genetic Predisposition to Disease
    • genetics
    • Humans
    • immunology
    • Immunophenotyping
    • Leukemia,Lymphocytic,Chronic,B-Cell
    • Male
    • Middle Aged
    • Phenotype
    • Prevalence


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