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

Autor: 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-Khac, Marta 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
Jazyk: angličtina
Rok vydání: 2016
Předmět:
Zdroj: Haematologica, Vol 101, Iss 8 (2016)
Druh dokumentu: article
ISSN: 0390-6078
1592-8721
DOI: 10.3324/haematol.2016.141812
Popis: 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
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