AXIN2 VARYASYONLARI ARTMIŞ PEDİATRİK T-ALL RİSKİNE KATKIDA BULUNABİLİR

Abstract

Objective:Deregulated WNT signaling was reported in T-ALL and other cancers. AXIN2 is a negative regulator of the active WNT signaling andAXIN2gene variants were associated with increased cancer risk. In this study, we aimed to determineAXIN2variations and compare with clinic features in T-ALL.Methods:Thirty-two diagnostic T-ALL patients were retrospectively enrolled in the study. Coding sites of theAXIN2were amplified by PCR and then screened by denaturing high- performance liquid chromatography (dHPLC). Patients with differential chromatograms were evaluated by Sanger sequencing.Results:None of the patients had pathogenicAXIN2variants. Besides that,AXIN2polymorphisms, rs2240308/ rs1133683/ rs9915936 were detected in 14 (43.7%) T-ALL patients. Genotype distributions of the rs2240308 and rs1133683 variants in T-ALL group were significantly different from controls (rs2240308, GG/GA p=0.029; rs1133683, GG/GA p<0.0001) and G allele increased the overall risk of T-ALL compared to A allele in both polymorphisms. We did not observe any clinical differences betweenAXIN2variant carriers or non-carriers.Conclusion:AXIN2rs2240308 and rs1133683 variants revealed significant positive associations between susceptibility to T-ALL.