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Updated: Feb 18, 2026

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Published on: October 17, 2025
Relapse and cytogenetic evolution in myeloid neoplasms
Natalie Ertz-Archambault1, Katalin Kelemen2
1Department of Laboratory Medicine and Pathology, Mayo Clinic Hospital, Phoenix, AZ, USA.
Cytogenetic evolution in myeloid neoplasms involves non-random karyotype changes during disease progression and relapse. Monitoring these changes, especially after allogeneic hematopoietic cell transplantation, is crucial for predicting relapse and survival outcomes.
Area of Science:
- Hematology
- Cytogenetics
- Oncology
Background:
- Cytogenetic findings are central to diagnosing myeloid neoplasms per WHO classification.
- Karyotype abnormalities can change over time, exhibiting evolution or regression.
- Understanding these patterns is key for managing myeloid malignancies.
Purpose of the Study:
- To analyze cytogenetic evolution patterns in myeloid neoplasms.
- To investigate the significance of karyotype changes in chronic myelogenous leukemia (CML) and acute myeloid leukemia (AML).
- To assess the prognostic value of cytogenetic evolution in patients undergoing allogeneic hematopoietic cell transplantation (allo-HCT).
Main Methods:
- Review of cytogenetic evolution pathways in CML, including major and minor route abnormalities.
- Analysis of karyotype changes in Ph-negative cells of CML patients treated with imatinib.
- Examination of karyotype evolution in AML patients post-chemotherapy and post-allo-HCT.
Main Results:
- Cytogenetic evolution in CML follows specific major and minor routes.
- Ph-negative karyotype abnormalities in CML patients treated with imatinib require further investigation.
- Karyotype evolution in AML, particularly post-allo-HCT, is associated with shorter remission and survival.
- Detection of karyotype abnormalities post-allo-HCT often precedes relapse within 90 days.
Conclusions:
- Cytogenetic evolution is a non-random process in myeloid neoplasms with prognostic implications.
- Monitoring karyotype changes is essential for managing CML and AML, especially after allo-HCT.
- Further research is needed to understand the impact of chemotherapy and the bone marrow environment on karyotype stability.
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