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Different prognostic impact of recurrent gene mutations in chronic lymphocytic leukemia depending on IGHV gene somatic hypermutation status: a study by ERIC in HARMONY
L. Mansouri, B. Thorvaldsdottir, LA. Sutton, G. Karakatsoulis, M. Meggendorfer, H. Parker, F. Nadeu, C. Brieghel, S. Laidou, R. Moia, D. Rossi, M. Catherwood, J. Kotaskova, J. Delgado, AE. Rodríguez-Vicente, R. Benito, GM. Rigolin, S. Bonfiglio,...
Jazyk angličtina Země Anglie, Velká Británie
Typ dokumentu časopisecké články, práce podpořená grantem
Grantová podpora
C42023/A29370
Cancer Research UK - United Kingdom
C24563/A15581
Cancer Research UK - United Kingdom
C34999/A18087
Cancer Research UK - United Kingdom
C2750/A23669
Cancer Research UK - United Kingdom
NLK
ProQuest Central
od 2000-01-01 do Před 1 rokem
Open Access Digital Library
od 1997-01-01
Nursing & Allied Health Database (ProQuest)
od 2000-01-01 do Před 1 rokem
Health & Medicine (ProQuest)
od 2000-01-01 do Před 1 rokem
Public Health Database (ProQuest)
od 2000-01-01 do Před 1 rokem
- MeSH
- chronická lymfatická leukemie * genetika MeSH
- fenotyp MeSH
- lidé MeSH
- mutace MeSH
- myeloidní diferenciační faktor 88 genetika MeSH
- prognóza MeSH
- Check Tag
- lidé MeSH
- Publikační typ
- časopisecké články MeSH
- práce podpořená grantem MeSH
Recent evidence suggests that the prognostic impact of gene mutations in patients with chronic lymphocytic leukemia (CLL) may differ depending on the immunoglobulin heavy variable (IGHV) gene somatic hypermutation (SHM) status. In this study, we assessed the impact of nine recurrently mutated genes (BIRC3, EGR2, MYD88, NFKBIE, NOTCH1, POT1, SF3B1, TP53, and XPO1) in pre-treatment samples from 4580 patients with CLL, using time-to-first-treatment (TTFT) as the primary end-point in relation to IGHV gene SHM status. Mutations were detected in 1588 (34.7%) patients at frequencies ranging from 2.3-9.8% with mutations in NOTCH1 being the most frequent. In both univariate and multivariate analyses, mutations in all genes except MYD88 were associated with a significantly shorter TTFT. In multivariate analysis of Binet stage A patients, performed separately for IGHV-mutated (M-CLL) and unmutated CLL (U-CLL), a different spectrum of gene alterations independently predicted short TTFT within the two subgroups. While SF3B1 and XPO1 mutations were independent prognostic variables in both U-CLL and M-CLL, TP53, BIRC3 and EGR2 aberrations were significant predictors only in U-CLL, and NOTCH1 and NFKBIE only in M-CLL. Our findings underscore the need for a compartmentalized approach to identify high-risk patients, particularly among M-CLL patients, with potential implications for stratified management.
All India Institute of Medical Sciences New Delhi India
Cancer Research Center CSIC University of Salamanca Salamanca Spain
Central European Institute of Technology Masaryk University Brno Czech Republic
Centre for Research and Technology Hellas Institute of Applied Biosciences Thessaloniki Greece
Centro de Investigación Biomédica en Red de Cáncer Madrid Spain
Clinical Epidemiology Division Department of Medicine Solna Karolinska Institutet Stockholm Sweden
Clinical Genetics Karolinska University Hospital Solna Sweden
Department of Hematology INCLIVA Research Insitute University of Valencia Valencia Spain
Department of Hematology Rigshospitalet Copenhagen University Hospital Copenhagen Denmark
Department of Hematology University Hospital of Salamanca Salamanca Spain
Department of Immunology Genetics and Pathology Uppsala University Uppsala Sweden
Department of Internal Medicine Hematology and Oncology University Hospital Brno Brno Czech Republic
Department of Mathematics University of Ioannina Ioannina Greece
Department of Molecular Medicine and Surgery Karolinska Institutet Stockholm Sweden
Division of Hematology Oncology Institute of Southern Switzerland Bellinzona Switzerland
Faculty of Medicine Masaryk University Brno Czech Republic
Haematology Department Beaumont Hospital Dublin Ireland
Hematological Diseases Laboratory CIMA LAB Diagnostics University of Navarra Pamplona Spain
Hematology Department of Medical Sciences University of Ferrara Ferrara Italy
Hospital Clínic of Barcelona Barcelona Spain
Hospital Universitario 12 Octubre Madrid Spain
IdiSNA Navarra Institute for Health Research Pamplona Spain
Institut d'Investigacions Biomèdiques August Pi i Sunyer Barcelona Spain
Instituto de Investigación Biomédica Salamanca Spain
Laboratory of Experimental Hematology Institute of Oncology Research Bellinzona Switzerland
MLL Munich Leukemia Laboratory Munich Germany
Molecular Pathology Department University Hospitals Dorset Bournemouth UK
Patrick G Johnston Centre for Cancer Research Queen's University Belfast Belfast UK
Sorbonne Université Service d'Hématologie Clinique Hôpital Pitié Salpêtrière APHP Paris France
Spanish National Cancer Research Madrid Spain
Università Vita Salute San Raffaele and IRCCS Ospedale San Raffaele Milano Italy
Citace poskytuje Crossref.org
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