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|Ref Type||Journal Article|
|Authors||Armstrong AE, Walterhouse DO, Leavey PJ, Reichek J, Walz AL|
|Title||Prolonged response to sorafenib in a patient with refractory metastatic osteosarcoma and a somatic PDGFRA D846V mutation.|
|Journal||Pediatric blood & cancer|
|Abstract Text||Outcome for patients with metastatic or recurrent/refractory osteosarcoma remains poor. Responses to sorafenib, a multikinase inhibitor, have been seen in recurrent/refractory osteosarcoma, although specific biomarkers of response have not been described. We report a partial response in a 7-year-old with refractory osteosarcoma treated with sorafenib 200 mg twice daily. Toxicities included Common Terminology Criteria for Adverse Events Grade 2 skin toxicities and growth suppression. After 51 months of therapy, he suffered a recurrence. Tumor sequencing later revealed a PDGFRA D846V mutation that was not identified in the relapse specimen. This case demonstrates prolonged partial response to sorafenib and provides a potential biomarker for response.|
|Molecular Profile||Treatment Approach|
|Gene Name||Source||Synonyms||Protein Domains||Gene Description||Gene Role|
|Therapy Name||Drugs||Efficacy Evidence||Clinical Trials|
|Drug Name||Trade Name||Synonyms||Drug Classes||Drug Description|
|Gene||Variant||Impact||Protein Effect||Variant Description||Associated with drug Resistance|
|ARID1A||P2114L||missense||unknown||ARID1A P2114L lies within the GR binding domain of the Arid1a protein (PMID: 23208470). P2114L has been identified in the scientific literature (PMID: 30318721), but has not been biochemically characterized and therefore, its effect on Arid1a protein function is unknown (PubMed, Jul 2020).|
|Molecular Profile||Indication/Tumor Type||Response Type||Therapy Name||Approval Status||Evidence Type||Efficacy Evidence||References|
|PDGFRA D846V||osteosarcoma||predicted - sensitive||Sorafenib||Case Reports/Case Series||Actionable||In a clinical case study, a pediatric patient with metastatic osteosarcoma demonstrated a partial response to treatment with Nexavar (sorafenib) for 51 months prior to recurrence, and analysis of the pre-progression tumor demonstrated presence of PDGFRA D846V, which was not present in the post-progression sample, suggesting that the PDGFRA variant may have conferred sensitivity to Nexavar (sorafenib) (PMID: 30318721).||30318721|