Influence of ERCC2 gene polymorphisms on the treatment outcome of osteosarcoma

We conducted a prospective study to investigate the role of ERCC2 gene polymorphisms on the outcome of cisplatin-based treatment in patients with osteosarcoma. A total of 115 patients with osteosarcoma were included in our study. Genotyping of ERCC2 Asn312Asp (rs1799793) and Lys751Gln (rs13181) was performed using a matrix-assisted laser desorption/ionization time-of-flight mass spectrometry method. Of the 115 patients, 78 showed complete or partial response to chemotherapy, with a response rate of 67.85%. Our study suggested that the AA genotype of ERCC2 Asn312Asp was associated with a better response to chemotherapy, and the related adjusted OR (95%CI) was 4.85 (1.06-42.71). By Cox proportional hazards model analysis, we found that the AA genotype of ERCC2 Asn312Asp was associated with longer overall survival of patients with osteosarcoma when compared with the GG genotype, and the hazards ratio (95%CI) for the AA genotype was 0.65 (0.27-1.47). In conclusion, our study found that the ERCC2 Asn312Asp gene polymorphism likely plays an important role in influencing the chemotherapy response and overall survival of patients with osteosarcoma.