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Prolonged response to sorafenib in a patient with refractory metastatic osteosarcoma and a somatic PDGFRA D846V

Amy E Armstrong1, David O Walterhouse1,2, Patrick J Leavey3

  • 1Division of Hematology, Oncology, and Transplantation, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, Illinois.

Pediatric Blood & Cancer
|October 16, 2018
PubMed

Insights

A young patient with refractory osteosarcoma experienced a prolonged partial response to sorafenib treatment. Tumor sequencing identified a PDGFRA D846V mutation, suggesting a potential biomarker for sorafenib efficacy in osteosarcoma.

Area of Science:

  • Oncology
  • Pharmacology
  • Genetics

Background:

  • Metastatic or recurrent/refractory osteosarcoma has a poor prognosis.
  • Sorafenib, a multikinase inhibitor, has shown some efficacy in osteosarcoma, but response biomarkers are lacking.

Observation:

  • A 7-year-old patient with refractory osteosarcoma was treated with sorafenib (200 mg twice daily).
  • The patient achieved a partial response lasting 51 months, with toxicities including Grade 2 skin issues and growth suppression.
  • Recurrence occurred after 51 months of therapy.

Findings:

  • Tumor sequencing of the initial specimen revealed a PDGFRA D846V mutation.
  • This mutation was not present in the relapse specimen.
  • The PDGFRA D846V mutation is proposed as a potential biomarker for sorafenib response.

Implications:

  • This case highlights the potential for prolonged benefit from sorafenib in select osteosarcoma patients.
  • The PDGFRA D846V mutation may guide targeted therapy selection for refractory osteosarcoma.
  • Further research is warranted to validate PDGFRA D846V as a predictive biomarker for sorafenib treatment.
Keywords:
osteosarcomaplatelet-derived growth factor receptor (PDGFR)sorafenib

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