ArticleBlood advances2020
Mutation accumulation in cancer genes relates to nonoptimal outcome in chronic myeloid leukemia.
Article in Blood advances, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 36 papers, 1 of them a synthesis that pooled it.
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Who cites it
36 citing papers in PubMed, 1 synthesis or guideline pooled it, 65 citations in OpenAlex.
- 2025 European LeukemiaNet recommendations for the management of chronic myeloid leukemia.Leukemia · 2025Guideline
- Impact of Somatic Mutations on Treatment Response and Resistance in Chronic Myeloid Leukemia.International journal of laboratory hematology · 2026Article
- Intrinsic cellular resistance to BCR::ABL1 inhibitors.Haematologica · 2026Review
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- ConcurrentEJHaem · 2026Article
- Therapeutic Targets for Overcoming BCR::ABL1 Tyrosine Kinase Inhibitor Resistance in Chronic Myeloid Leukemia.Oncology research · 2026Review
- An old leukaemia in young patients-Genetic characteristics of paediatric chronic myeloid leukaemia.British journal of haematology · 2025Review
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- Somatic mutations associate with clonal expansion of CD8Science advances · 2024Article
- Integrated drug profiling and CRISPR screening identify BCR::ABL1-independent vulnerabilities in chronic myeloid leukemia.Cell reports. Medicine · 2024Article
- Joint analysis of mutational and transcriptional landscapes in human cancer reveals key perturbations during cancer evolution.Genome biology · 2024Article
- Article
- European LeukemiaNet laboratory recommendations for the diagnosis and management of chronic myeloid leukemia.Leukemia · 2023Review
- New patterns of genetic instability in chronic myeloid leukemia: interesting, but not ready for clinical use.Haematologica · 2023Article
- Impact of additional genetic abnormalities at diagnosis of chronic myeloid leukemia for first-line imatinib-treated patients receiving proactive treatment intervention.Haematologica · 2023Article
- Article
- Prognosis in Chronic Myeloid Leukemia: Baseline Factors, Dynamic Risk Assessment and Novel Insights.Cells · 2023Review
Corrections and comments
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Authors and funding
12 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Chronic myeloid leukemia (CML) is a myeloproliferative neoplasm accounting for ∼15% of all leukemia. Progress of the disease from an indolent chronic phase to the more aggressive accelerated phase or blast phase (BP) occurs in a minority of cases and is associated with an accumulation of somatic mutations. We performed genetic profiling of 85 samples and transcriptome profiling of 12 samples from 59 CML patients. We identified recurrent somatic mutations in ABL1 (37%), ASXL1 (26%), RUNX1 (16%), and BCOR (16%) in the BP and observed that mutation signatures in the BP resembled those of acute myeloid leukemia (AML). We found that mutation load differed between the indolent and aggressive phases and that nonoptimal responders had more nonsilent mutations than did optimal responders at the time of diagnosis, as well as in follow-up. Using RNA sequencing, we identified other than BCR-ABL1 cancer-associated hybrid genes in 6 of the 7 BP samples. Uncovered expression alterations were in turn associated with mechanisms and pathways that could be targeted in CML management and by which somatic alterations may emerge in CML. Last, we showed the value of genetic data in CML management in a personalized medicine setting.
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