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Genetic alterations and measurable residual disease in core binding factor acute myeloid leukemia

Leukemia volume 40, pages 970–981 (2026) Cite this article

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Abstract

Measurable residual disease (MRD) is a major prognostic factor in Core Binding Factor (CBF) AML. KIT or FLT3 mutations also have prognostic relevance, but little is known about their prognostic value when accounting for MRD. We analyzed the prognostic value of genetic alterations adjusting for early MRD response in adult CBF-AML patients. We grouped data from the retrospective multicenter study RetroCBF (NCT05070208, training set) and the prospective CBF-2006 trial (NCT00428558, validation set). Centralized high-throughput sequencing was performed with 36 genes. 656 CBF-AML patients in first CR were included between 2007 and 2020 (RetroCBF n = 461; CBF-2006 n = 195). In a LASSO-penalized model including MRD and genetic alterations performed in the RetroCBF training cohort, KIT-TKD in RUNX1::RUNX1T1 and FLT3-ITD in CBFB::MYH11 were associated with a higher risk of relapse. Including these genetic alterations with MRD in the training cohort, 3-year cumulative incidence of relapse was 22% (95%CI:13–33%) in low-risk patients (MRD low AND no KIT-TKD [RUNX1::RUNX1T1] or FLT3-ITD [CBFB::MYH11]) versus 53% (95%CI 46%-60%) in high-risk patients (csHR=3.21 [95%CI:1.83–5.62], p < 0.0001). These results were confirmed in the CBF-2006 validation cohort. KIT-TKD mutations in RUNX1::RUNX1T1 and FLT3-ITD in CBFB::MYH11 worsen prognosis independently of MRD and must be included in risk stratification of CBF AMLs.

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Fig. 1: Molecular landscape and outcomes in CBF patients.
The alternative text for this image may have been generated using AI.
Fig. 2: MRD kinetics and prognostic impact according to CBF subtype.
The alternative text for this image may have been generated using AI.
Fig. 3: Prognostic impact of MRD and genetic alterations.
The alternative text for this image may have been generated using AI.
Fig. 4: Risk stratification integrating genetic alterations and MRD.
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Data availability

Data are available upon reasonable request to the corresponding author.

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Acknowledgements

This work was supported by funding from the integrated cancer research center “SiRIC InsiTu: Insights into cancer: From inflammation to tumor” (grant number INCa-DGOS-INSERM-ITMO Cancer_18008), by a grant managed by the French National Research Agency under the France 2030 program, with the reference ANR-23-IAHU-0005, Leukemia Institute Paris Saint-Louis and by Fondation ARC pour la Recherche sur le Cancer ([PGA1 RC20180206836]). This study was supported by the Fondation pour la Recherche Médicale, grant number FDM202306017181 to LV and by ITMO Plan Cancer–Aviesan and the Bettencourt Schueller foundation (CCA-INSERM-Bettencourt) to MD. The authors thank all Acute Leukemia French Intergroup investigators. The work of all clinical research assistants is also acknowledged.

Author information

Authors and Affiliations

  1. Adolescent and Young Adult Hematology Unit, Saint Louis University Hospital, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France

    Loïc Vasseur & Nicolas Boissel

  2. Epidemiology and Clinical Statistics for Trials & Real-world evidence Research (ECSTRRA), Saint Louis Research Institute, INSERM, Université de Paris, Paris, France

    Loïc Vasseur, Jérôme Lambert & Nicolas Boissel

  3. Hematology Laboratory, Saint Louis University Hospital, AP-HP, Paris, France

    Matthieu Duchmann

  4. Saint-Louis Research Institute, Unité UMR1342, INSERM, Université Paris Cité, Paris, France

    Matthieu Duchmann & Raphaël Itzykson

  5. Laboratory of Hematology, Centre Hospitalier Universitaire (CHU) Lille, Lille, France

    Nicolas Duployez & Claude Preudhomme

  6. Univ. Lille, IRCL, CNRS-UMR9020, Inserm-U1277, ONCOLILLE - CANTHER - Cancer Heterogeneity Plasticity and Resistance to Therapies, Lille, France

    Nicolas Duployez, Céline Berthon & Claude Preudhomme

  7. Adult Hematology, Saint Louis University Hospital, AP-HP, Paris, France

    Emmanuel Raffoux, Hervé Dombret & Raphaël Itzykson

  8. Hematology Department, CHU Lille, Lille, France

    Céline Berthon

  9. Hematology Department, CHU de Lyon, Lyon, France

    Maël Heiblig

  10. Hematology Department, Saint Antoine University Hospital, AP-HP, Paris, France

    Alexis Genthon

  11. Hematology Department, Avicenne University Hospital, AP-HP, Bobigny, France

    Thorsten Braun

  12. Hematology Department, Henri Mondor University Hospital, AP-HP, Créteil, France

    Mathieu Leclerc

  13. Hematology Department, CHU Amiens, Amiens, France

    Delphine Lebon

  14. Basse-Normandie Hematology Institute, CHU de Caen, Caen, France

    Sylvain Chantepie

  15. Hematology Department, Gustave Roussy Institute, Villejuif, France

    Jean-Baptiste Micol

  16. Clinical Hematology Department, Versailles Hospital, Le Chesnay-Rocquencourt, France

    Juliette Lambert

  17. Hematology Department, Cancer University Institute of Toulouse Oncopole, Toulouse, France

    Christian Récher

  18. Hematology Department, CHU Dijon, Dijon, France

    Marie-Lorraine Chrétien

  19. Department for Clinical Hematology, Nice University Hospital, Nice, France

    Alexandre Iat

  20. Hematology Department, Dupuytren University Hospital, Limoges, France

    Julien Vaidie

  21. Clinical Hematology Department, Percy Army Training Hospital, Clamart, France

    Jean-Valère Malfuson

  22. Clinical Hematology Department, Pitié-Salpétrière University Hospital, AP-HP, Paris, France

    Madalina Uzunov

  23. Hematology Department, Haut-Lévèque Hospital, CHU de Bordeaux, Pessac, France

    Arnaud Pigneux

  24. Hematology Department, Hôtel-Dieu University Hospital, Nantes, France

    Pierre Peterlin

  25. Hematology and Immunology Department, Henri Mondor University Hospital, AP-HP, Créteil, France

    Sihem Tarfi

  26. Sorbonne Université, INSERM, Centre de Recherche Saint-Antoine, CRSA, AP-HP, SIRIC CURAMUS, Hôpital Saint-Antoine, Service d’Hématologie Biologique, 75012, Paris, France

    Pierre Hirsch

  27. Department of Genetic Oncology, Henri Becquerel Center, Rouen, France

    Dominique Penther

  28. Clinical Hematology Departement, CHU de Nimes, Nimes, France

    Eric Jourdan

  29. ALFA office, Saint-Louis University Hospital, Paris, France

    Karine Celli-Lebras & Hervé Dombret

  30. Biostatistics and Medical Information Department, Saint Louis University Hospital, AP-HP, Paris, France

    Jérôme Lambert

Authors
  1. Loïc Vasseur
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  2. Matthieu Duchmann
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  3. Nicolas Duployez
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  10. Delphine Lebon
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  11. Sylvain Chantepie
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  12. Jean-Baptiste Micol
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  13. Juliette Lambert
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  14. Christian Récher
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  15. Marie-Lorraine Chrétien
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  18. Jean-Valère Malfuson
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  19. Madalina Uzunov
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  20. Arnaud Pigneux
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  21. Pierre Peterlin
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  22. Sihem Tarfi
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  23. Pierre Hirsch
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  29. Jérôme Lambert
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  30. Nicolas Boissel
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  31. Raphaël Itzykson
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EJ was the principal investigator of the CBF-2006 trial. ER, CB, MH, AG, TB, ML, DL, SC, J-BM, JL, CR, M-LC, AI, JV, J-VM, MU, AP, PP, EJ, HD, NB, and RI enrolled patients and provided clinical data. KC-L and LV created and handled the patient database. MD, ND, and CP performed genomic analyses. MD, ST, PH, ND, and CP performed MRD quantification. DP reviewed cytogenetic data. LV, MD, and RI assembled and analyzed the data and drafted the manuscript. JL supervised statistical analyses. RI and NB supervised the study. All authors revised the manuscript and accepted its final version.

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Correspondence to Raphaël Itzykson.

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This study has been presented in part at the 66th American Society of Hematology Annual Meeting (San Diego, 2024).

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Vasseur, L., Duchmann, M., Duployez, N. et al. Genetic alterations and measurable residual disease in core binding factor acute myeloid leukemia. Leukemia 40, 970–981 (2026). https://doi.org/10.1038/s41375-026-02900-x

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