Different spectra of recurrent gene mutations in subsets of chronic lymphocytic leukemia harboring stereotyped B-cell receptors

Lesley Ann Sutton, Emma Young, Panagiotis Baliakas, Anastasia Hadzidimitriou, Theodoros Moysiadis, Karla Plevova, Davide Rossi, Jana Kminkova, Evangelia Stalika, Lone Bredo Pedersen, Jitka Malcikova, Andreas Agathangelidis, Zadie Davis, Larry Mansouri, Lydia Scarfò, Myriam Boudjoghra, Alba Navarro, Alice F. Muggen, Xiao Jie Yan, Florence Nguyen-KhacMarta Larrayoz, Panagiotis Panagiotidis, Nicholas Chiorazzi, Carsten Utoft Niemann, Chrysoula Belessi, Elias Campo, Jonathan C. Strefford, Anton W. Langerak, David Oscier, Gianluca Gaidano, Sarka Pospisilova, Frederic Davi, Paolo Ghia, Kostas Stamatopoulos, Richard Rosenquist

Research output: Contribution to journalArticle

Abstract

We report on markedly different frequencies of genetic lesions within subsets of chronic lymphocytic leukemia patients carrying mutated or unmutated stereotyped B-cell receptor immunoglobulins in the largest cohort (n=565) studied for this purpose. By combining data on recurrent gene mutations (BIRC3, MYD88, NOTCH1, SF3B1 and TP53) and cytogenetic aberrations, we reveal a subset-biased acquisition of gene mutations. More specifically, the frequency of NOTCH1 mutations was found to be enriched in subsets expressing unmutated immunoglobulin genes, i.e. #1, #6, #8 and #59 (22-34%), often in association with trisomy 12, and was significantly different (P

Original languageEnglish
Pages (from-to)959-967
Number of pages9
JournalHaematologica
Volume101
Issue number8
DOIs
Publication statusPublished - Jul 31 2016

ASJC Scopus subject areas

  • Hematology

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    Sutton, L. A., Young, E., Baliakas, P., Hadzidimitriou, A., Moysiadis, T., Plevova, K., Rossi, D., Kminkova, J., Stalika, E., Pedersen, L. B., Malcikova, J., Agathangelidis, A., Davis, Z., Mansouri, L., Scarfò, L., Boudjoghra, M., Navarro, A., Muggen, A. F., Yan, X. J., ... Rosenquist, R. (2016). Different spectra of recurrent gene mutations in subsets of chronic lymphocytic leukemia harboring stereotyped B-cell receptors. Haematologica, 101(8), 959-967. https://doi.org/10.3324/haematol.2016.141812