Mixed-phenotype (B-lymphocytic/myeloid) acute leukemia with ETV6-ABL1 expression
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Luting Wang1, Dabao He2, Lina Lu3
1Luting Wang Department of Hematology, Shenzhen Longhua District Central Hospital, Shenzhen 518110 Guangdong, China.
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.
Insights
Mixed-phenotype acute leukemia (MPAL) with ETV6-ABL1 fusion gene positivity indicates a poor prognosis. Targeted therapy with tyrosine kinase inhibitors (TKIs) improved survival in ALL and MPN patients.
Area of Science:
- Hematology
- Oncology
- Molecular Biology
Background:
- Mixed-phenotype acute leukemia (MPAL) is a rare hematologic malignancy, comprising 2-5% of acute leukemia cases.
- The ETV6-ABL1 fusion gene is associated with various hematologic malignancies, including acute myeloid leukemia (AML), acute lymphocytic leukemia (ALL), and myeloproliferative neoplasms (MPNs).
- ETV6-ABL1 positivity in MPAL suggests a poor prognosis.
Purpose of the Study:
- To report the first case of B lymphocytic/myeloid MPAL with ETV6-ABL1 fusion gene positivity.
- To analyze the treatment response and survival outcomes in patients with MPAL and ETV6-ABL1 rearrangement.
Main Methods:
- A cohort of 126 patients with ETV6-ABL1 rearrangement was analyzed, including 125 cases from published data and current patients.
- Treatment involved chemotherapy for lymphoid and myeloid leukemia and targeted therapy with tyrosine kinase inhibitors (TKIs).
- Survival analysis was conducted to compare outcomes between patients receiving TKI treatment and those who did not.
Main Results:
- The study identified a unique case of B lymphocytic/myeloid MPAL with ETV6-ABL1 fusion gene positivity.
- Complete remission was achieved with combined chemotherapy and TKI treatment in the reported MPAL case.
- ETV6-ABL1 fusion gene transcript expression was found in 126 cases of hematologic malignancies, with ALL (48 cases), AML (12 cases), and MPN (65 cases) being most frequent.
- Eosinophilia was noted as a common characteristic, particularly in MPN patients.
Conclusions:
- ETV6-ABL1 fusion gene positivity in MPAL is associated with a poor prognosis.
- Targeted therapy with TKIs, such as dasatinib or nilotinib, significantly improves survival in ALL and MPN patients with ETV6-ABL1 rearrangement.
- Dasatinib and nilotinib demonstrated greater efficacy than imatinib in MPN patients.
