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Review
. 2024 Jul;40(6):1294-1299.
doi: 10.12669/pjms.40.6.8497.

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

Luting Wang  1 , Dabao He  2 , Lina Lu  3 , Heng Wang  4 , Suyun Wang  5
Affiliations
Review

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

Luting Wang et al. Pak J Med Sci. 2024 Jul.

Abstract

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.

Keywords: ETV6-ABL1; Mixed-phenotype acute leukemia; TKI.

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Conflict of interest statement

Conflicts of interest: None.

Figures

Fig.1
Fig.1
Malignancy subtypes and age of the ETV6-ABL1-positive cases.
Fig.2
Fig.2
Malignancy subtypes and eosinophilia of ETV6-ABL1-positive cases.
Fig.3
Fig.3
Bone marrow cell morphology and flow cytometry results. A 1. myeloblast 2. lymphoblast 3. immature granulocyte; B 1. myeloblast 2. lymphoblast; C 1. MPO+ mature granulocyte 2. MPO+ blast 3. MPO- lymphoblast; D 1-2 MPO+ immature granulocyte 3. MPO- lymphoblast 4. MPO- prolymphocyte 5. MPO+ immature granulocyte; E-H flow cytometry CD33+, D117+, CD19-, CD10+, CD22+, CD20- immunophenotype
Fig.4
Fig.4
Overall survival of ETV6-ABL1-positive patients receiving different therapies. A: Survival analysis between TKI treatment and no TKI treatment in ALL patients. B: Survival analysis between TKI treatment and no TKI treatment in MPN patients. C: Survival analysis between imatinib and dasatinib/nilotinib of MPN patients.
See this image and copyright information in PMC

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