Evaluation of PAX5 gene in the early stages of leukemic B cells in the childhood B cell acute lymphoblastic leukemia.

Firtina S., Sayitoglu M., Hatirnaz Ö. , Erbilgin Y., Oztunc C., Cinar S., ...More

Leukemia research, vol.36, no.1, pp.87-92, 2012 (Journal Indexed in SCI) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 36 Issue: 1
  • Publication Date: 2012
  • Doi Number: 10.1016/j.leukres.2011.07.017
  • Title of Journal : Leukemia research
  • Page Numbers: pp.87-92


B-lineage acute lymphoblastic leukemia (B-ALL) is a common subtype of acute leukemia in children. PAX5 plays a central role in B-cell development and differentiation. In this study, we analyzed PAX5 expression levels, transactivation domain mutations/deletions in B-ALL patients (n = 115) and healthy controls (n = 10). Relative PAX5 mRNA levels were significantly increased in B-ALL patients (p < 0.0001). PAX5 expression was also evaluated in three different B-ALL subgroups (pro B, Common B and Pre B ALL) and showed stage specific expression levels. Pro B (p = 0.04) and pre B (p = 0.04) patients showed significantly high PAX5 mRNA levels compared to stage specific controls. At least one deletion of exons 7-8 or 9 has been identified in the 41% of the patients. CD34 positivity in patients and presence of large deletions (Delta 7/8/9) showed a significant correlation (p = 0.05). None of our patients showed PAX5 point mutations, but two previously identified SNPs (rs3780135 and rs35469494) were detected. Our results support that PAX5 is a critical factor in B-ALL development and aberrant PAX5 expression especially at early stages may leads to leukemic transformation. (C) 2011 Elsevier Ltd. All rights reserved.