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Yayınlanmış 1 Ocak 2012 | Sürüm v1
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Evaluation of PAX5 gene in the early stages of leukemic B cells in the childhood B cell acute lymphoblastic leukemia

Oluşturanlar

  • 1. Istanbul Univ, Expt Med Res Inst, Dept Genet, Istanbul, Turkey
  • 2. Istanbul Univ, Expt Med Res Inst, Dept Immunol, Istanbul, Turkey
  • 3. Istanbul Univ, Cerrahpasa Med Fac, Pediat Hematol Div, Istanbul, Turkey
  • 4. Istanbul Univ, Istanbul Fac Med, Pediat Hematol Div, Istanbul, Turkey
  • 5. Minist Hlth Goztepe Educ & Res Hosp, Pediat Hematol Div, Istanbul, Turkey
  • 6. Bakirkoy Matern & Children Hosp, Dept Pediat, Istanbul, Turkey
  • 7. Minist Hlth Okmeydani Educ & Res Hosp, Dept Pediat Hematol, Istanbul, Turkey
  • 8. Minist Hlth Sisli Etfal Educ & Res Hosp, Pediat Hematol Div, Istanbul, Turkey
  • 9. Trakya Univ, Trakya Med Fac, Pediat Hematol Div, Edirne, Turkey
  • 10. Kocaeli Univ, Kocaeli Med Fac, Pediat Hematol Div, Kocaeli, Turkey

Açıklama

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.

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