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Peer-reviewedCC BYZhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi

[KMT2A-rearranged acute lymphoblastic leukemia with lineage switch following relapse: a case report and literature review].

  1. 1Senior Department of Hematology, Chinese PLA General Hospital, Beijing 100071, China.

Abstract

To enhance the understanding of lineage switch (LS), we retrospectively analyzed the clinical data of a patient with KMT2A-rearranged acute lymphoblastic leukemia (ALL) who underwent a LS at relapse and reviewed the relevant literature. The patient, a 23-year-old woman, was initially diagnosed with ALL (KMT2A::AFF1-positive). She experienced a relapse during consolidation chemotherapy and achieved a second remission following chemotherapy containing blinatumomab, subsequently bridging to allogeneic stem cell transplantation. Approximately 2 months after transplantation, extensive extramedullary relapse occurred. Immunohistochemical analysis of the extramedullary mass revealed a partial loss of CD19 expression and emergence of MPO expression, whereas the KMT2A rearrangement was retained. After receiving CD19-CAR-T therapy, the patient experienced another extramedullary relapse, at which time complete loss of CD19 expression and positivity for MPO were observed, leading to a diagnosis of myeloid sarcoma. Ultimately, the family opted to discontinue treatment and the patient was discharged to receive care locally. Following antigen-targeted immunotherapy, LS, as a potential mechanism of drug resistance and adaptation, warrants increased clinical attention.

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BibTeX
@article{qiao2026kmt2arearranged,
  title = {{[KMT2A-rearranged acute lymphoblastic leukemia with lineage switch following relapse: a case report and literature review].}},
  author = {Z Q Qiao and Y P Shi and L D Hu},
  journal = {Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi},
  year = {2026},
  month = aug,
  doi = {10.3760/cma.j.cn121090-20260228-00114},
  url = {https://europepmc.org/article/MED/42851184},
  note = {CC BY},
}
RIS
TY  - JOUR
TI  - [KMT2A-rearranged acute lymphoblastic leukemia with lineage switch following relapse: a case report and literature review].
AU  - Z Q Qiao
AU  - Y P Shi
AU  - L D Hu
PY  - 2026
DA  - 2026/08/01
JO  - Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi
DO  - 10.3760/cma.j.cn121090-20260228-00114
UR  - https://europepmc.org/article/MED/42851184
AB  - To enhance the understanding of lineage switch (LS), we retrospectively analyzed the clinical data of a patient with KMT2A-rearranged acute lymphoblastic leukemia (ALL) who underwent a LS at relapse and reviewed the relevant literature. The patient, a 23-year-old woman, was initially diagnosed with ALL (KMT2A::AFF1-positive). She experienced a relapse during consolidation chemotherapy and achieved a second remission following chemotherapy containing blinatumomab, subsequently bridging to allogeneic stem cell transplantation. Approximately 2 months after transplantation, extensive extramedullary relapse occurred. Immunohistochemical analysis of the extramedullary mass revealed a partial loss of CD19 expression and emergence of MPO expression, whereas the KMT2A rearrangement was retained. After receiving CD19-CAR-T therapy, the patient experienced another extramedullary relapse, at which time complete loss of CD19 expression and positivity for MPO were observed, leading to a diagnosis of myeloid sarcoma. Ultimately, the family opted to discontinue treatment and the patient was discharged to receive care locally. Following antigen-targeted immunotherapy, LS, as a potential mechanism of drug resistance and adaptation, warrants increased clinical attention.
SN  - 0253-2727
SN  - 2707-9740
ER  -