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April 14, 2026Blood Cancer JournalOpen Access

CMML2AML: machine-learning discovery of co-mutations and specific single mutations predictive of blast transformation in chronic myelomonocytic leukemia

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Authors

SFSaubia FathimaMayo Clinic in ArizonaLRLior RokachBen-Gurion University of the NegevMYMuhammad YousufMayo Clinic in Arizona

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Overview

Analysis uncovers mutations predicting blast transformation in chronic myelomonocytic leukemia, suggesting new risk models.

Key Points

  • The aim is to identify concurrent mutations in CMML that predict blast transformation and improve risk assessments.
  • Applied machine-learning algorithms to analyze mutation interactions.
  • Developed a hierarchical clustering algorithm for patient stratification.
  • Conducted Cox regression analysis on identified mutations and combinations.
  • Identified five molecular clusters with varied BT rates from 0% to 100%.
  • Confirmed significant impact of mutations like NPM1, NRAS + SETBP1, and ASXL1 + BCOR on BT risk.
  • NPM1-mutated cases showed less likelihood of co-occurring mutations with ASXL1 and RUNX1.

Cite This Study

Fathima et al. (2026) studied this question.

synapsesocial.com/papers/69ddd8eee195c95cdefd66fchttps://doi.org/10.1038/s41408-026-01491-1
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Also Consider

Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

  1. 1CMML2AML: Machine-learning discovery of co-mutations predictive of blast transformation in chronic myelomonocytic leukemia2025
  2. 2Myeloproliferative neoplasm driver mutations (JAK2/CALR/MPL) in chronic myelomonocytic leukemia are associated with an increased risk of blast transformation2025
  3. 3Molecular-Based Ecosystem to Improve Personalized Medicine in Chronic Myelomonocytic Leukemia2026 · 4 citations
  4. 4CBL mutations in chronic myelomonocytic leukemia often occur in the RING domain with multiple subclones per patient: Implications for targeting2024 · 1 citations
  5. 5Prognostic impact of co-occurring mutations in NPM1-mutated Acute Myeloid Leukemia2025