Distinct patterns of novel gene mutations in poor-prognostic stereotyped subsets of chronic lymphocytic leukemia: the case of SF3B1 and subset #2

J C Strefford, L-A Sutton, P Baliakas, A Agathangelidis, J Malčíková, K Plevova, L Scarfó, Zachary James Davis, E Stalika, D Cortese, N Cahill, L B Pedersen, P F di Celle, T Tzenou, C Geisler, P Panagiotidis, A W Langerak, N Chiorazzi, S Pospisilova, D OscierF Davi, C Belessi, L Mansouri, P Ghia, K Stamatopoulos, R Rosenquist

    98 Citationer (Scopus)

    Abstract

    Recent studies have revealed recurrent mutations of the NOTCH1, SF3B1 and BIRC3 genes in chronic lymphocytic leukemia (CLL), especially among aggressive, chemorefractory cases. Nevertheless, it is currently unknown whether their presence may differ in subsets of patients carrying stereotyped B-cell receptors and also exhibiting distinct prognoses. Here, we analyzed the mutation status of NOTCH1, SF3B1 and BIRC3 in three subsets with particularly poor prognosis, that is, subset #1, #2 and #8, aiming to explore links between genetic aberrations and immune signaling. A remarkably higher frequency of SF3B1 mutations was revealed in subset #2 (44%) versus subset #1 and #8 (4.6% and 0%, respectively; P
    OriginalsprogEngelsk
    TidsskriftLeukemia
    Vol/bind27
    Udgave nummer11
    Sider (fra-til)2196-9
    Antal sider4
    ISSN0887-6924
    DOI
    StatusUdgivet - nov. 2013

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