Pharmacogenomics and Pharmacogenetics in Osteosarcoma: Translational Studies and Clinical Impact

Claudia Maria Hattinger, Maria Pia Patrizio, Silvia Luppi, Massimo Serra

Research output: Contribution to journalReview articlepeer-review


High-grade osteosarcoma (HGOS) is a very aggressive bone tumor which primarily affects adolescents and young adults. Although not advanced as is the case for other cancers, pharmacogenetic and pharmacogenomic studies applied to HGOS have been providing hope for an improved understanding of the biology and the identification of genetic biomarkers, which may impact on clinical care management. Recent developments of pharmacogenetics and pharmacogenomics in HGOS are expected to: i) highlight genetic events that trigger oncogenesis or which may act as drivers of disease; ii) validate research models that best predict clinical behavior; and iii) indicate genetic biomarkers associated with clinical outcome (in terms of treatment response, survival probability and susceptibility to chemotherapy-related toxicities). The generated body of information may be translated to clinical settings, in order to improve both effectiveness and safety of conventional chemotherapy trials as well as to indicate new tailored treatment strategies. Here, we review and summarize the current scientific evidence for each of the aforementioned issues in view of possible clinical applications.

Original languageEnglish
Pages (from-to)1-34
Number of pages34
JournalInternational Journal of Molecular Sciences
Issue number13
Publication statusPublished - Jun 30 2020


  • osteosarcoma
  • pharmacogenetics
  • pharmacogenomics
  • tailored treatment
  • toxicity


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