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Comprehensive analysis of constitutional mismatch repair deficiency-associated non-Hodgkin lymphomas in a global cohort
C. Rigaud, VJ. Forster, H. Al-Tarrah, A. Attarbaschi, V. Bianchi, A. Burke, B. Burkhardt, C. Colas, C. Devalck, M. Edwards, S. Elitzur, AK. Garthe, Y. Goldberg, L. Guerrini-Rousseau, S. Horpaopan, D. Januszkiewicz-Lewandowska, E. Kabíčková, CP....
Jazyk angličtina Země Spojené státy americké
Typ dokumentu časopisecké články
Grantová podpora
Fondation Gustave Roussy
BRAINchild Canada
The LivWise Foundation
Stand Up To Cancer-Bristol-Myers Squibb Catalyst Research
SickKids Foundation donors
Ministerio de Ciencia e Innovación
Deutsche Kinderkrebsstiftung
Canadian Institutes for Health Research
PubMed
39300701
DOI
10.1002/pbc.31302
Knihovny.cz E-zdroje
- MeSH
- dědičné nádorové syndromy genetika mortalita MeSH
- dítě MeSH
- dospělí MeSH
- kojenec MeSH
- kolorektální nádory MeSH
- lidé MeSH
- míra přežití MeSH
- mladiství MeSH
- mladý dospělý MeSH
- nádory mozku MeSH
- následné studie MeSH
- nehodgkinský lymfom * mortalita genetika epidemiologie MeSH
- předškolní dítě MeSH
- prognóza MeSH
- retrospektivní studie MeSH
- Check Tag
- dítě MeSH
- dospělí MeSH
- kojenec MeSH
- lidé MeSH
- mladiství MeSH
- mladý dospělý MeSH
- mužské pohlaví MeSH
- předškolní dítě MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
BACKGROUND: Constitutional mismatch repair deficiency syndrome (CMMRD) is a rare childhood cancer predisposition syndrome associated with a broad spectrum of malignancies, including non-Hodgkin lymphomas (NHL). Most patients die due to cancer before the age of 20 years. Limited data exist on CMMRD-associated lymphomas and their outcome. METHODS: We conducted a retrospective study including all CMMRD-associated NHL patients registered before 2020 in the European and North American databases or reported by members of the European Intergroup for Childhood Non-Hodgkin Lymphoma (EICNHL). Events considered to define event-free survival included relapse/progression, second malignancy (SML), or death, whichever occurred first. FINDINGS: The analysis included 74 patients, with 20 having multiple metachronous NHL. The median age at diagnosis was 9.4 years. Previous malignancies were reported in 36% of the patients, café au lait spots in 96%, and consanguinity in 54%. The initial lymphoma subtypes were 53 T-cell lymphoblastic lymphomas (T-LBL), four B-lymphoblastic lymphomas, and 17 mature B-cell non-Hodgkin lymphoma (B-NHL). All patients were treated with curative intent, with current chemotherapy regimens adapted to their subtype. The median follow-up was 8.7 years. After the first lymphoma, the 5-year event-free and overall survival rates were, respectively, 23.5% [95% confidence interval (CI): 14.9-35.1] and 61.5% [95% CI: 49.6-72.1]. The 5-year cumulative risk of progression/relapse, SML or death as a first event was 20.8%, 52.9%, and 2.7%. INTERPRETATION: Standard treatments for sporadic NHL are effective in most CMMRD-associated NHL cases, but multiple malignancies, including lymphomas, impair prognosis. Future strategies should evaluate the potential of less genotoxic therapies, including immunotherapy, in preventing SMLs while maintaining effective control of NHL.
Consortium for Biomedical Research in Cancer CIBERONC Carlos 3 Institute of Health Madrid Spain
Department of Genetics Institut Curie University Paris Sciences Lettres Paris France
Division of Hematology and Oncology The Hospital for Sick Children Toronto Ontario Canada
Hemato Oncology Department HUB ULB HUDERF Brussels Belgium
Hereditary Cancer Genetic Diagnostic Laboratory University Hospital Doce de Octubre Madrid Spain
Institute of Human Genetics Medical University of Innsbruck Innsbruck Austria
National Children's Research Centre at Children's Health Ireland Dublin Ireland
Pediatric Hematology and Oncology Hannover Medical School Hannover Germany
Pediatric Oncology Unit University Hospital Doce de Octubre Madrid Spain
Princess Máxima Center for Pediatric Oncology 3584 CS Utrecht The Netherlands
Raphael Recanati Genetics Institute Rabin Medical Center Beilinson Hospital Petah Tikva Israel
Sackler School for Faculty Tel Aviv University Tel Aviv Israel
St Anna Children's Cancer Research Institute Vienna Austria
St Anna Children's Hospital Medical University Vienna Austria
Citace poskytuje Crossref.org
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