BCR-ABL1 Gene Mutation in Acute Lymphoblastic Leukemia


  • Shabih Haider Armed forces Institute of Pathology
  • Asad Mahmood AFIT Rawalpindi
  • Fahim AKhtar Army Medical College
  • Rafia Mahmood CMH Hyderabad
  • Saadia Muzafar Watim Medical College
  • Maliha Batool Polyclinic Hospital Islamabad




Objective:  Determination of frequency of BCR-ABL1 gene mutation in Acute Lymphoblastic Leukemia.

Methodology: This cross sectional study was carried out at the Department of Molecular Haematology, Armed Forces Institute of Pathology between January 2018 to March 2021. All newly diagnosed patients of Acute Lymphoblastic Leukemia were included in the study while patients already on treatment and with secondary leukemia were excluded from the study. Blood counts were done and various parameters such as total leukocyte count, hemoglobin, and platelet count were calculated.

Results: 623 patients were included in the study. BCR-ABL gene was positive in 105 (16.8%) patients. A total of 96 (92%) were positive for BCR ABL p190 rearrangement and 9 (8%) were positive for BCR ABL p210 rearrangement.  Mean age of patients was 21 years. The frequency of BCR ABL gene was positive in 72% males and 28% females. BCR-ABL positive ALL was associated with higher TLC count. CNS involvement was more common in Acute Lymphoblastic Leukemia with BCR-ABL. The likelihood of post-induction remission decreased with age.

Conclusion: In our study population, a frequency of 16.8% patients were BCR ABL1 positive in acute lymphoblastic leukemia. BCR- ABL gene mutation in ALL is more prevalent in young adults. The frequency of p190 rearrangement is more common than p210 BCR-ABL rearrangement. BCR-ABL positive ALL is more prevalent in males than in females.





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