EJHaem · 2026
Clonal Evolution and Lineage Switch from T-Cell Acute Lymphoblastic Leukemia to Acute Myeloid Leukemia in Therapy-Resistant PICALM::MLLT10 Leukemia.
СтатьяНазвание и аннотация: Перевод пока не подготовлен
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Kawamura Machiko, Sadato Daichi, Haruta Masayuki, Kubota Nobuko, Harada Yuka, Kobayashi Takeshi, Doki Noriko, Kasai Fumio, Nishimura Yu, Kobayashi Hirofumi, Maseki Nobuo
Аннотация
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.
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.