Related Experiment Video
Updated: Jan 28, 2026
Murine Model of Leukemia Relapse to Induction Chemotherapy for Acute Lymphoblastic Leukemia
Published on: October 17, 2025
Clonal Evolution and Lineage Switch from T-Cell Acute Lymphoblastic Leukemia to Acute Myeloid Leukemia in
Machiko Kawamura1,2, Daichi Sadato3, Masayuki Haruta4
1Department of Clinical Laboratory Medicine Saitama Cancer Center Saitama Japan.
Background:
PICALM::MLLT10-positive T-ALL is rare and associated with poor prognosis. Lineage switch to AML is exceptionally uncommon, particularly after long-term remission.
Case Presentation:
We report an adolescent PICALM::MLLT10-positive T-ALL with a cortical thymocyte, non-ETP phenotype. The patient achieved complete remission but relapsed as AML 6 years later. Cytogenetics revealed del(5q), del(17p), and 17q gain. Mutational profiling demonstrated mutations with LOH in NF1 and EZH2, a hemizygous SMC1A mutation, and a hemizygous PHF6 mutation detected only after subsequent therapy.
Conclusion:
This case illustrates that therapy-resistant PICALM::MLLT10 progenitors can persist during remission and re-emerge as AML through lineage switch. The sequential acquisition of cooperating genetic lesions supports clonal evolution and highlights the need for molecular monitoring and novel therapeutic strategies.
Trial Registration:
The authors have confirmed clinical trial registration is not needed for this submission.
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