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Ref Type Journal Article
PMID (30318721)
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
Vol 66
Issue 1
Date 2019 Jan
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.


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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