Identification of genetic variants in pharmacokinetic genes associated with Ewing Sarcoma treatment outcome

Ewing sarcoma is the second most frequent primary malignant bone tumor diagnosed in children and adolescents, after osteosarcoma; 30%-40% of patients with a localized primary tumor and 60%-80% of patients with disseminated disease experience relapse locally and/or distantly. In this study we report, and replicate in an independent cohort, associations between germline variants in three pharmacokinetic genes and overall survival. This is the first study to apply an integrated pathway-based approach to investigate the pharmacogenetics of this disease, and the results could be used to develop clinical strategies to improve early therapeutic decisions for these patients.

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