Prevalence of common fusion genes among Thai pediatric patients with B-cell acute lymphoblastic

Authors

  • Suwimon Sriprach Division of Hematology and Oncology, Department of Pediatrics, Faculty of Medicine, Siriraj Hospital, Mahidol University, Bangkok
  • Chayamon Takpradit Division of Hematology and Oncology, Department of Pediatrics, Faculty of Medicine, Siriraj Hospital, Mahidol University, Bangkok

DOI:

https://doi.org/10.69898/jhtm.v34i3.271167

Keywords:

B-ALL, Fusion genes, Pediatric, Prevalence, Thailand

Abstract

Background: Identifying genetic alterations among patients with B-cell acute lymphoblastic leukemia (B-ALL) is required for risk classification, prognosis and tailored therapy to avoid relapse. Methods: Reverse transcription-polymerase chain reaction (RT-PCR) was performed to determine the prevalence of 4 common fusion genes for B-ALL: ETV6-RUNX1, TCF3-PBX1, BCR-ABL1 and MLL-AF4. Bone marrow samples from 145 Thai patients with de novo B-ALL, aged between 0 and 18 years, were analyzed. Results: Thirty-eight cases (26.2%) were positive for the 4 common fusion genes. The prevalence of ETV6-RUNX1, TCF3-PBX1, BCR-ABL1 and MLL-AF4 was 11.7, 9.7, 4.1 and 0.7% respectively. No co-expression of 2 fusion genes was observed. The distribution of the 4 common fusion genes among age groups showed no significant difference (P = 0.944). MLL-AF4 was detected only in an infant, while BCR-ABL1 was not found among adolescents (P = 0.030). TCF3-PBX1 and BCR-ABL1 were significantly associated with central nervous system involvement (P = 0.028). Most patients with BCR-ABL1 and MLL-AF4 had comparable cytogenetic test results, whereas patients with ETV6-RUNX1 and TCF3-PBX1 did not. Conclusion: Regarding 4 common fusion genes, ETV6-RUNX1 and TCF3-PBX1 were predominantly seen among B-ALL patients. RT-PCR is a precise tool to detect fusion genes, but chromosome testing remains inadequate. More extensive studies and broader tests involving more fusion genes are needed.

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References

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2024-08-22

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นิพนธ์ต้นฉบับ (Original article)