[Myeloid/lymphoid neoplasm with ETV6::ABL1 fusion: a case report and literature review].

W W Li, Y Liu, Q Jiang

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In one paragraph

Review in Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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3 authors.

W W LiDepartment of Hematlogy, Peking University People's Hospital Qingdao Hospital, Women and Children's Hospital, Qingdao University, Qingdao 266000, China.

Y LiuDepartment of Hematology, Peking University People's Hospital, Peking University Institute of Hematology, National Clinical Center of Hematologic Disease, Beijing 100044, China.

Q JiangDepartment of Hematology, Peking University People's Hospital, Peking University Institute of Hematology, National Clinical Center of Hematologic Disease, Beijing 100044, China.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

To enhance understanding of myeloid/lymphoid neoplasms with ETV6:: ABL1 fusion, we retrospectively analyzed the clinical data of a patient with myeloid lymphoid neoplasms with ETV6:: ABL1 fusion. A review of the relevant literature was also conducted. The patient, a 33-year-old male, presented with a "10-month history of fatigue" and was initially diagnosed with "atypical chronic myeloid leukemia" following comprehensive clinical evaluation. Treatment with imatinib (400 mg once daily) was initiated. Based on findings from the literature and in accordance with the "World Health Organization 5th edition classification of hematopoietic and lymphoid tumors" and "the 2022 International Consensus Classification," the diagnosis was revised to "myeloid/lymphoid neoplasm with ETV6:: ABL1 fusion (M/LN-ETV6::ABL1) ." Following treatment, the patient's fatigue significantly improved, and the fusion gene became undetectable. M/LN-ETV6:: ABL1 fusion are extremely rare and often clinically resemble CML, making them susceptible to misdiagnosis and underdiagnosis.

Indexed as

Oncogene Proteins, FusionProto-Oncogene Proteins c-ablProto-Oncogene Proteins c-etsRepressor ProteinsAdultETS Translocation Variant 6 ProteinHumansMaleRetrospective StudiesETS Translocation Variant 6 ProteinOncogene Proteins, FusionProto-Oncogene Proteins c-ablProto-Oncogene Proteins c-etsRepressor Proteins

Identifiers

PMID40887424

DOI10.3760/cma.j.cn121090-20250122-00040

PMCPMC12439725

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