Mixed-phenotype (B-lymphocytic/myeloid) acute leukemia with ETV6-ABL1 expression

Mixed-phenotype (B-lymphocytic/myeloid) acute leukemia

  • Luting Wang
  • Dabao He
  • Lina Lu
  • Heng Wang
  • Suyun Wang Shenzhen Longhua District Central Hospital
Keywords: Mixed-phenotype acute leukemia, ETV6-ABL1, TKI


Objectives: Mixed-phenotype acute leukemia (MPAL) is rare in the clinic, accounting for approximately 2%-5% of acute leukemia cases.

Methods: In this study the cohort included 126 patients, of which 125 cases were from re-examined published data and current patients from Shenzhen Longhua District Central Hospital, carrying an ETV6-ABL1 rearrangement from April 15, 2020 to December 19, 2020. The ETS variant transcription factor 6-Abelson proto-oncogene 1 (ETV6-ABL1) fusion gene is mainly seen in malignant hematological diseases such as acute myeloid leukemia (AML), acute lymphocytic leukemia (ALL), myeloproliferative neoplasms (MPNs). Positivity of both MPAL and ETV6-ABL1 suggest a poor prognosis. This is the first report of B lymphocytic/myeloid mixed-phenotype acute leukemia with ETV6-ABL1 fusion gene positivity. Complete remission was achieved with chemotherapy for lymphoid and myeloid leukemia and targeted therapy with tyrosine kinase inhibitors (TKIs).

Results: The level of ETV6-ABL1/ABL decreased from 23.056% to 11.165%. After consolidation chemotherapy, the patient underwent allogeneic hematopoietic stem cell transplantation but died due to intestinal rejection. There are 126 cases of ETV6-ABL1 fusion gene transcript expression in numerous hematologic malignancies reported to date, including 48 cases of ALL, 12 of AML, and 65 of MPN. Eosinophilia is a common characteristic, especially in MPN patients.

Conclusion: Survival analysis suggests that the survival time of ALL and MPN patients receiving TKI treatment is better than that of patients not receiving this treatment. Dasatinib or nilotinib, especially the former, is more effective than imatinib for MPN.

doi: https://doi.org/10.12669/pjms.40.6.8497

How to cite this: Wang L, He D, Lu L, Wang H, Wang S. Mixed-phenotype (B-lymphocytic/myeloid) acute leukemia with ETV6-ABL1 expression. Pak J Med Sci. 2024;40(6):1294-1299. doi: https://doi.org/10.12669/pjms.40.6.8497

This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/3.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

How to Cite
Wang, L., He, D., Lu, L., Wang, H., & Wang, S. (2024). Mixed-phenotype (B-lymphocytic/myeloid) acute leukemia with ETV6-ABL1 expression: Mixed-phenotype (B-lymphocytic/myeloid) acute leukemia. Pakistan Journal of Medical Sciences, 40(6). https://doi.org/10.12669/pjms.40.6.8497
Review Article