Objective: Deregulated WNT signaling was reported in T-ALL and other cancers. AXIN2 is a negative regulator of the active WNT signaling and AXIN2 gene variants were associated with increased cancer risk. In this study, we aimed to determine AXIN2 variations and compare with clinic features in T-ALL.
Methods: Thirty-two diagnostic T-ALL patients were retrospectively enrolled in the study. Coding sites of the AXIN2 were 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 pathogenic AXIN2 variants. Besides that, AXIN2 polymorphisms, 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 between AXIN2 variant carriers or non-carriers.
Conclusion: AXIN2 rs2240308 and rs1133683 variants revealed significant positive associations between susceptibility to T-ALL.