Different spectra of recurrent gene mutations in subsets of chronic lymphocytic leukemia harboring stereotyped B-cell receptors
| Autor: | Marta Larrayoz, Panagiotis Panagiotidis, Theodoros Moysiadis, Evangelia Stalika, Kostas Stamatopoulos, Alba Navarro, Šárka Pospíšilová, Xiao-Jie Yan, Chrysoula Belessi, Jitka Malčíková, Florence Nguyen-Khac, Frederic Davi, Richard Rosenquist, Lesley-Ann Sutton, Lone Bredo Pedersen, Nicholas Chiorazzi, Karla Plevová, Gianluca Gaidano, Panagiotis Baliakas, Lydia Scarfò, Emma Young, Andreas Agathangelidis, Paolo Ghia, Anton W. Langerak, Carsten Utoft Niemann, Davide Rossi, Jonathan C. Strefford, Elias Campo, Alice F. Muggen, Myriam Boudjoghra, Larry Mansouri, Jana Kminkova, Anastasia Hadzidimitriou, Zadie Davis, David Oscier |
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| Přispěvatelé: | Sutton, Lesley Ann, Young, Emma, Baliakas, Panagioti, Hadzidimitriou, Anastasia, Moysiadis, Theodoro, Plevova, Karla, Rossi, Davide, Kminkova, Jana, Stalika, Evangelia, Pedersen, Lone Bredo, Malcikova, Jitka, Agathangelidis, Andrea, Davis, Zadie, Mansouri, Larry, Scarfò, Lydia, Boudjoghra, Myriam, Navarro, Alba, Muggen, Alice F., Yan, Xiao Jie, Nguyen Khac, Florence, Larrayoz, Marta, Panagiotidis, Panagioti, Chiorazzi, Nichola, Niemann, Carsten Utoft, Belessi, Chrysoula, Campo, Elia, Strefford, Jonathan C., Langerak, Anton W., Oscier, David, Gaidano, Gianluca, Pospisilova, Sarka, Davi, Frederic, Ghia, PAOLO PROSPERO, Stamatopoulos, Kosta, Rosenquist, Richard, Immunology, Uppsala Universitet [Uppsala], Centre for Research and Technology Hellas (CERTH), Masaryk University [Brno] (MUNI), Università degli Studi del Piemonte Orientale - Amedeo Avogadro (UPO), Rigshospitalet [Copenhagen], Copenhagen University Hospital, Università Vita e Salute, San Raffaele, Milano, Italy, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS San Raffaele Pisana), Royal Bournemouth Hospital, Université Pierre et Marie Curie - Paris 6 (UPMC), Service d'Hématologie clinique [CHU Pitié-Salpêtrière], CHU Pitié-Salpêtrière [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Universitat de Barcelona (UB), Erasmus University Medical Center [Rotterdam] (Erasmus MC), The Feinstein Institute for Medical Research, University of Southampton, National and Kapodistrian University of Athens (NKUA), Hematology Department, Nikea General Hospital, Piraeus, Greece, George Papanicolau Hospital, Universitat de Barcelona, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU) |
| Jazyk: | angličtina |
| Rok vydání: | 2016 |
| Předmět: |
Male
Chronic lymphocytic leukemia Immunoglobulin Variable Region Receptors Antigen B-Cell Somatic hypermutation [SDV.CAN]Life Sciences [q-bio]/Cancer Gene mutation Biology medicine.disease_cause Polymorphism Single Nucleotide Somatic evolution in cancer 03 medical and health sciences Genètica mèdica 0302 clinical medicine Gene Frequency Biomarkers Tumor medicine Humans Leucèmia limfocítica crònica Gene Rearrangement B-Lymphocyte Genetics Mutation Genes Immunoglobulin Mutació (Biologia) Medical genetics [SDV.MHEP.HEM]Life Sciences [q-bio]/Human health and pathology/Hematology Articles Gene rearrangement Hematology Mutation (Biology) Prognosis medicine.disease Complementarity Determining Regions Leukemia Lymphocytic Chronic B-Cell 3. Good health Leukemia 030220 oncology & carcinogenesis Cytogenetic Analysis Immunoglobulin Joining Region Immunoglobulin heavy chain Female Immunoglobulin Heavy Chains 030215 immunology |
| Zdroj: | Haematologica, 101(8), 959-967. Ferrata Storti Foundation Dipòsit Digital de la UB Universidad de Barcelona Recercat. Dipósit de la Recerca de Catalunya instname Haematologica Haematologica, Ferrata Storti Foundation, 2016, 101 (8), pp.959-967. ⟨10.3324/haematol.2016.141812⟩ Haematologica, 2016, 101 (8), pp.959-967. ⟨10.3324/haematol.2016.141812⟩ |
| ISSN: | 0390-6078 1592-8721 |
| Popis: | on behalf of ERIC, the European Research Initiative on CLL; International audience; We report on markedly different frequencies of genetic lesions within subsets of chronic lymphocytic leukemia patients carrying mutated or unmutated stereotyped B-cell receptor immunoglobu-lins 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 immunoglobu-lin genes, i.e. #1, #6, #8 and #59 (22-34%), often in association with trisomy 12, and was significantly different (P |
| Databáze: | OpenAIRE |
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