title: Evaluation of PAX5 gene in the early stages of leukemic B cells in the childhood B cell acute lymphoblastic leukemia.
abstract: 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 (Δ7/8/9) 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.
authors.affiliation: Department of Genetics, Institute of Experimental Medicine Research, Istanbul University, Istanbul, Turkey.
authors.forename: Sinem
authors.initials: S
authors.lastname: Firtina
authors.forename: Muge
authors.initials: M
authors.lastname: Sayitoglu
authors.forename: Ozden
authors.initials: O
authors.lastname: Hatirnaz
authors.forename: Yucel
authors.initials: Y
authors.lastname: Erbilgin
authors.forename: Ceren
authors.initials: C
authors.lastname: Oztunc
authors.forename: Suzan
authors.initials: S
authors.lastname: Cinar
authors.forename: Inci
authors.initials: I
authors.lastname: Yildiz
authors.forename: Tiraje
authors.initials: T
authors.lastname: Celkan
authors.forename: Sema
authors.initials: S
authors.lastname: Anak
authors.forename: Aysegul
authors.initials: A
authors.lastname: Unuvar
authors.forename: Omer
authors.initials: O
authors.lastname: Devecioglu
authors.forename: Cetin
authors.initials: C
authors.lastname: Timur
authors.forename: Gonul
authors.initials: G
authors.lastname: Aydogan
authors.forename: Arzu
authors.initials: A
authors.lastname: Akcay
authors.forename: Didem
authors.initials: D
authors.lastname: Atay
authors.forename: Emine
authors.initials: E
authors.lastname: Turkkan
authors.forename: Serap
authors.initials: S
authors.lastname: Karaman
authors.forename: Betul
authors.initials: B
authors.lastname: Orhaner
authors.forename: Nazan
authors.initials: N
authors.lastname: Sarper
authors.forename: Gunnur
authors.initials: G
authors.lastname: Deniz
authors.forename: Ugur
authors.initials: U
authors.lastname: Ozbek
mesh_terms: D001402:B-Lymphocytes / Q000378:metabolism* / Q000473:pathology; D002460:Cell Line; D002471:Cell Transformation, Neoplastic / Q000235:genetics / Q000473:pathology; D002648:Child; D002675:Child, Preschool; D015331:Cohort Studies; D005260:Female; D015973:Gene Expression Regulation, Leukemic; D006801:Humans; D007223:Infant; D008297:Male; D009154:Mutation; D009367:Neoplasm Staging; D051757:PAX5 Transcription Factor / Q000235:genetics* / Q000378:metabolism; D015452:Precursor B-Cell Lymphoblastic Leukemia-Lymphoma / Q000235:genetics* / Q000276:immunology / Q000473:pathology; D020033:Protein Isoforms / Q000235:genetics / Q000378:metabolism
chemical_list: D051757:PAX5 Transcription Factor; C497281:PAX5 protein, human; D020033:Protein Isoforms