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[Distribution of ETV6-ABL Fusion Gene in Hematopoietic Cell Populations of Myeloproliferative Neoplasm]
Yuan Chen1, Qian Liu1, Yan Li2
1State Key Laboratory of Experimental Hematology, Tianjin 300020, China.
Objective:
To explore the expression level of ETV6-ABL fusion gene in different cell populations in patients with myeloproliferative neoplasm (MPN) and therapeutic effect of tyrosine kinase inhibitor (TKI).
Methods:
A 42-year-old man who presented with fever, marked leukocytosis and chronic myelogenous leukemia (CML) like MPN was reported. ETV6-ABL fusion gene was detected by real-time PCR and confirmed by direct sequencing. ETV6-ABL mRNA expression in each cell population sorted from peripheral blood by flow cytometry was detected by real-time PCR.
Results:
ETV6-ABL fusion gene was found out in bone marrow cells and confirmed as type A by direct sequencing. ETV6-ABL fusion gene transcript level in polymorphonuclear cells was nearly 3.6-fold relative to that in total cells, which was significantly higher than that in T cell, B cell and monocyte subsets. The complete blood count (CBC) returned to normal level after treatment with imatinib (400 mg) daily for three months. After TKI treatment for 6 months, the ratio of ETV6-ABL/ABL decreased from 174.1% to 1.9%.
Conclusion:
ETV6-ABL fusion gene positive MPN may have a CML clinical presentation and is sensitive to TKI. ETV6-ABL fusion gene is specifically expressed in polymorphonuclear cells.
Insights
The ETV6-ABL fusion gene, often seen in myeloproliferative neoplasms (MPN), is specifically expressed in polymorphonuclear cells and responds well to tyrosine kinase inhibitor (TKI) therapy.
Area of Science:
- Hematology
- Molecular Biology
- Oncology
Background:
- Myeloproliferative neoplasms (MPN) are a group of diseases characterized by the overproduction of myeloid cells.
- The ETV6-ABL fusion gene is a known driver in certain hematologic malignancies.
- Understanding gene expression patterns in different cell populations is crucial for targeted therapies.
Observation:
- A case of chronic myelogenous leukemia (CML)-like MPN in a 42-year-old male was investigated.
- ETV6-ABL fusion gene was detected and confirmed via real-time PCR and direct sequencing.
- Flow cytometry was used to sort peripheral blood cells for gene expression analysis.
Findings:
- The ETV6-ABL fusion gene was identified in bone marrow cells.
- Expression of the ETV6-ABL transcript was significantly higher (3.6-fold) in polymorphonuclear cells compared to T cells, B cells, and monocytes.
- Treatment with imatinib (a tyrosine kinase inhibitor) normalized complete blood counts within three months and reduced the ETV6-ABL/ABL ratio from 174.1% to 1.9% within six months.
Implications:
- ETV6-ABL fusion gene-positive MPN can present with clinical features similar to CML.
- This specific type of MPN demonstrates sensitivity to tyrosine kinase inhibitor (TKI) treatment.
- The specific expression of the ETV6-ABL fusion gene in polymorphonuclear cells suggests a potential target for diagnostic and therapeutic strategies.
