Detection of MEN1 resistance mutations in cell-free DNA from acute leukemia patients treated with menin inhibitors - Summary - MDSpire

Detection of MEN1 resistance mutations in cell-free DNA from acute leukemia patients treated with menin inhibitors

  • By

  • Neerav Shukla

  • Karmelina Charalambous

  • Shanita Li

  • Kaitlyn H. Ko

  • Hilary Casanova

  • Eric Buehler

  • Cassidy Cobbs

  • Ruchi Patel

  • Angela Rose Brannon

  • Mark D. Ewalt

  • Maria Luisa Sulis

  • William L. Carroll

  • Maria E. Arcila

  • Neeman Mohibullah

  • Michael Berger

  • Ross L. Levine

  • Eytan M. Stein

  • Ronak Shah

  • Sheng F. Cai

  • June 16, 2026

  • 0 min

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Objective:

To evaluate the feasibility and utility of an NGS assay for detecting MEN1 resistance mutations in plasma-derived cfDNA from patients treated with menin inhibitors.

Approach:
    Key Findings:
    • MSK-ACCESS MEN1 detected MEN1 resistance mutations in plasma cfDNA even when bone marrow aspirates showed no circulating blasts.
    • The assay demonstrated high concordance with marrow-based sequencing, with a Pearson correlation coefficient of 0.979.
    • MEN1 resistance mutations were identified in plasma cfDNA before they were detectable in bone marrow samples.
    Interpretation:

    The findings suggest that plasma-derived cfDNA analysis can effectively identify MEN1 resistance mutations, offering a less invasive alternative to bone marrow sampling.

    Limitations:
    • The study relied on a limited number of case studies for validation in the context of MEN1 resistance mutations.
    • Further research is needed to establish the broader applicability of cfDNA analysis in diverse patient populations.
    Conclusion:

    MSK-ACCESS MEN1 assay provides a promising approach for monitoring MEN1 resistance mutations in acute leukemia patients undergoing treatment with menin inhibitors.

Original Source(s)

Detection of MEN1 resistance mutations in cell-free DNA from acute leukemia patients treated with menin inhibitors

  • by Neerav Shukla, Karmelina Charalambous, Shanita Li, Kaitlyn H. Ko, Hilary Casanova, Eric Buehler, Cassidy Cobbs, Ruchi Patel, Angela Rose Brannon, Mark D. Ewalt, Maria Luisa Sulis, William L. Carroll, Maria E. Arcila, Neeman Mohibullah, Michael Berger, Ross L. Levine, Eytan M. Stein, Ronak Shah, Sheng F. Cai

  • June 16, 2026

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