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, Z. 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

Research output: Contribution to journalArticlepeer-review

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

Original languageEnglish
Pages (from-to)2196-2199
Number of pages4
JournalLeukemia
Volume27
Issue number11
DOIs
Publication statusPublished - Nov 2013

Keywords

  • chronic lymphocytic leukemia
  • immunoglobulin genes
  • NOTCH1 mutations
  • prognosis
  • SF3B1 mutations
  • stereotyped B-cell receptors

ASJC Scopus subject areas

  • Hematology
  • Cancer Research
  • Anesthesiology and Pain Medicine

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