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Clonal Evolution and Lineage Switch from T-Cell Acute Lymphoblastic Leukemia to Acute Myeloid Leukemia in Therapy-Resistant Leukemia.

EJHaem 2026 Vol.7(1) p. e70217

Kawamura M, Sadato D, Haruta M, Kubota N, Harada Y, Kobayashi T, Doki N, Kasai F, Nishimura Y, Kobayashi H, Maseki N

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[BACKGROUND] -positive T-ALL is rare and associated with poor prognosis.

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BibTeX ↓ RIS ↓
APA Kawamura M, Sadato D, et al. (2026). Clonal Evolution and Lineage Switch from T-Cell Acute Lymphoblastic Leukemia to Acute Myeloid Leukemia in Therapy-Resistant Leukemia.. EJHaem, 7(1), e70217. https://doi.org/10.1002/jha2.70217
MLA Kawamura M, et al.. "Clonal Evolution and Lineage Switch from T-Cell Acute Lymphoblastic Leukemia to Acute Myeloid Leukemia in Therapy-Resistant Leukemia.." EJHaem, vol. 7, no. 1, 2026, pp. e70217.
PMID 41584902
DOI 10.1002/jha2.70217

Abstract

[BACKGROUND] -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 -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 and , a hemizygous mutation, and a hemizygous mutation detected only after subsequent therapy.

[CONCLUSION] This case illustrates that therapy-resistant 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.