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
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