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

Firtina, Sinem; Sayitoglu, Müge; Hatirnaz, Özden; Erbilgin, Yücel; Oztunc, Ceren; Cinar, Suzan; Yildiz, Inci; Celkan, Tülin; Anak, Sema; Unuvar, Ayşegül; Devecioglu, Omer; Timur, Cetin; AYDOGAN, Gonul; Akçay, Arzu; Atay, Didem; Türkkan, Emine; Karaman, Serap; ORHANER, Betul; Sarper, Nazan; Deniz, Günnur; Ozbek, Ugur

doi:10.1016/j.leukres.2011.07.017

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

Atıf İçin Kopyala

Firtina S., Sayitoglu M., Hatirnaz O., Erbilgin Y., Oztunc C., Cinar S., ...Daha Fazla

Leukemia research, cilt.36, sa.1, ss.87-92, 2012 (SCI-Expanded)

Yayın Türü: Makale / Tam Makale
Cilt numarası: 36 Sayı: 1
Basım Tarihi: 2012
Doi Numarası: 10.1016/j.leukres.2011.07.017
Dergi Adı: Leukemia research
Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
Sayfa Sayıları: ss.87-92
Anahtar Kelimeler: B lymphocytes, Acute leukemia, PAX5 expression, Mutation, Deletion, ECTOPIC EXPRESSION, FUSION GENES, LINEAGE, DIFFERENTIATION, PROGENITORS, IDENTITY, HAPLOINSUFFICIENCY, LYMPHOCYTES, MIGRATION, LYMPHOMAS
İstanbul Üniversitesi Adresli: Evet

Özet

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.