This is a preview of subscription content, access via your institution
Access options
Subscribe to this journal
Receive 12 print issues and online access
$259.00 per year
only $21.58 per issue
Buy this article
- Purchase on Springer Link
- Instant access to full article PDF
Prices may be subject to local taxes which are calculated during checkout
References
Khoury JD, Solary E, Abla O, Akkari Y, Alaggio R, Apperley JF, et al. The 5th edition of the World Health Organization Classification of Haematolymphoid Tumours: Myeloid and Histiocytic/Dendritic Neoplasms. Leukemia. 2022;36:1703–19.
Rio-Machin A, Vulliamy T, Hug N, Walne A, Tawana K, Cardoso S, et al. The complex genetic landscape of familial MDS and AML reveals pathogenic germline variants. Nat Commun. 2020;11:1044.
Feurstein S, Trottier AM, Estrada-Merly N, Pozsgai M, McNeely K, Drazer MW, et al. Germ line predisposition variants occur in myelodysplastic syndrome patients of all ages. Blood. 2022;140:2533–48.
Bartek J, Lukas J. Chk1 and Chk2 kinases in checkpoint control and cancer. Cancer Cell. 2003;3:421–9.
Stolarova L, Kleiblova P, Janatova M, Soukupova J, Zemankova P, Macurek L, et al. CHEK2 germline variants in cancer predisposition: stalemate rather than checkmate. Cells 2020;9:2675.
Döhner H, Wei AH, Appelbaum FR, Craddock C, DiNardo CD, Dombret H, et al. Diagnosis and management of AML in adults: 2022 recommendations from an international expert panel on behalf of the ELN. Blood. 2022;140:1345–77.
Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med 2015;17:405–24.
Vardiman JW, Thiele J, Arber DA, Brunning RD, Borowitz MJ, Porwit A, et al. The 2008 revision of the World Health Organization (WHO) classification of myeloid neoplasms and acute leukemia: rationale and important changes. Blood. 2009;114:937–51.
Adès L, Duployez N, Guerci-Bresler A, Laribi K, Peterlin P, Vey N, et al. A randomised phase II study of azacitidine (AZA) alone or with Lenalidomide (LEN), Valproic acid (VPA) or Idarubicin (IDA) in higher-Risk MDS or low blast AML: GFM’s “pick a winner” trial, with the impact of somatic mutations. Br J Haematol. 2022;198:535–44.
Greenberg PL, Tuechler H, Schanz J, Sanz G, Garcia-Manero G, Solé F, et al. Revised international prognostic scoring system for myelodysplastic syndromes. Blood. 2012;120:2454–65.
Yang F, Long N, Anekpuritanang T, Bottomly D, Savage JC, Lee T, et al. Identification and prioritization of myeloid malignancy germline variants in a large cohort of adult patients with AML. Blood. 2022;139:1208–21.
Hanson H, Astiazaran-Symonds E, Amendola LM, Balmaña J, Foulkes WD, James P, et al. Management of individuals with germline pathogenic/likely pathogenic variants in CHEK2: A clinical practice resource of the American College of Medical Genetics and Genomics (ACMG). Genetics in Medicine [Internet]. juill 2023 [cité 27 juill 2023];0. Disponible sur: https://www.gimjournal.org/article/S1098-3600(23)00883-3/fulltext.
Janiszewska H, Bąk A, Skonieczka K, Jaśkowiec A, Kiełbiński M, Jachalska A, et al. Constitutional mutations of the CHEK2 gene are a risk factor for MDS, but not for de novo AML. Leuk Res. 2018;70:74–8.
Brown AL, Arts P, Carmichael CL, Babic M, Dobbins J, Chong CE, et al. RUNX1-mutated families show phenotype heterogeneity and a somatic mutation profile unique to germline predisposed AML. Blood Adv. 2020;4:1131–44.
Kessler MD, Damask A, O’Keeffe S, Banerjee N, Li D, Watanabe K, et al. Common and rare variant associations with clonal haematopoiesis phenotypes. Nature. 2022;612:301–9.
Acknowledgements
We thank the patients and their families, primary investigators and biologists of the AZA-PLUS study. The authors thank the Saint-Louis and CHU de Lille Molecular Hematology laboratories. The authors thank all the physicians, nurses and all those who work for taking care of the patients The author thank the “groupe francophone des myélodysplasies (GFM)”, who supported this study.
Author information
Authors and Affiliations
Contributions
Contribution: MS, LF, LL, ND, and EC designed the study; EC, LL, GT, NV, MDC, MD, ND and JS provided and analyzed biological data; ER, LA, PF, MS and LF managed patients and provided clinical data; LF, LL, MS, and ND analyzed data and wrote the manuscript; and all authors reviewed the manuscript.
Corresponding author
Ethics declarations
Competing interests
The authors declare no competing interests.
Additional information
Publisher’s note Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.
Supplementary information
Rights and permissions
Springer Nature or its licensor (e.g. a society or other partner) holds exclusive rights to this article under a publishing agreement with the author(s) or other rightsholder(s); author self-archiving of the accepted manuscript version of this article is solely governed by the terms of such publishing agreement and applicable law.
About this article
Cite this article
Freiman, L., Larcher, L., Tueur, G. et al. Germline CHEK2 mutations in patients with myeloid neoplasms. Leukemia 38, 908–911 (2024). https://doi.org/10.1038/s41375-024-02179-w
Received:
Revised:
Accepted:
Published:
Issue Date:
DOI: https://doi.org/10.1038/s41375-024-02179-w