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Background  Acute lymphoblastic leukemia (ALL) is the most common pediatric cancer. While current treatment regimens achieve almost 80% overall survival, long-term side effects of chemotherapeutic agents can be severe. The functional  BCL2 -938C > A promoter polymorphism is known to influence the balance between survival and apoptosis of malignant hematolymphoid cells. We investigated its usefulness as a marker for treatment stratification for children with ALL.    Methods  We analyzed DNA from 182 children suffering from ALL in this study to determine genotypes of the−938 C > A polymorphism by “slow-down” PCR.    Results  ALL patients with the  BCL2 -938CC genotype had an approximately 3-fold higher risk of belonging to a high-risk group. Within the high-risk group, 50% of  BCL2 -938CC patients were classified as high-risk due to poor prednisone response whereas only 33% of patients with AC and AA genotypes were classified as high-risk for the same reason.    Conclusions  Our results suggest that  BCL2 -938C > A genotyping may be beneficial for therapy response prediction in ALL patients, and warrant examination in a larger cohort to validate its usefulness for treatment stratification of pediatric ALL patients.

The BCL2-938 C > A promoter polymorphism is associated with risk group classification in children with acute lymphoblastic leukemia