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December 8, 2025BloodOpen Access

Genetic evolution in CML patients from diagnosis to TKI failure: An analysis of 121 paired diagnosis and treatment failure samples

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Authors

MMMing-Chun MaCCChiu‐Chen ChenHCHung Chang

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Overview

This analysis reveals clonal evolution of gene mutations in CML patients during TKI failure, indicating implications for treatment strategies.

Key Points

  • This research aims to analyze gene mutations in chronic myeloid leukemia patients from diagnosis to treatment failure.
  • Analyzed paired diagnostic and failure samples from 121 CML patients
  • Investigated somatic mutations using next-generation sequencing
  • Monitored BCR::ABL1 transcript levels for at least 12 months
  • 55.4% of patients had at least one mutation detected
  • Notable mutations included RUNX1 and DNMT3A with a significant association to adverse outcomes
  • Patients with specific mutations showed inferior overall and progress-free survival rates

Cite This Study

Ma et al. (2025) studied this question.

synapsesocial.com/papers/69362f3a4fa91c937236d3eehttps://doi.org/10.1182/blood-2025-5555
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Also Consider

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

  1. 1ASXL1 and NOTCH1 mutations independently predict TKI treatment failure in chronic myeloid leukemia2025
  2. 2Impact of Somatic Mutations on Treatment Response and Resistance in Chronic Myeloid Leukemia2026
  3. 3Mutations in myeloid transcription factors and activated signaling genes predict chronic myeloid leukemia outcomes2024 · 16 citations
  4. 4Somatic mutations at diagnosis in patients with chronic Phase CML receiving frontline imatinib are associated with a higher rate of treatment failure: First analysis from the international CML foundation (iCMLf) genomics alliance on the harmony platform2025 · 1 citations
  5. 5Dynamic mutational evolution and transcriptomic remodeling on 3rd-generation TKI therapy in TKI-resistant patients with chronic myeloid leukemia2025