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Related Experiment Video

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Intratibial Osteosarcoma Cell Injection to Generate Orthotopic Osteosarcoma and Lung Metastasis Mouse Models

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Intrathoracic synovial sarcoma with BRAF V600E mutation.

Ida Russo¹, Sabina Barresi², Pier Luigi Di Paolo³

¹Department of Pediatric Hematology and Oncology, Gene and Cellular Therapy, Bambino Gesù Children's Hospital IRCCS, Rome, Italy.

|July 7, 2023

Summary

A BRAF V600E mutation was found in a patient with relapsed intrathoracic synovial sarcoma. Targeted therapy with Vemurafenib resulted in a partial response, showing the value of molecular profiling in rare cancers.

Keywords:

BRAF V600E mutation next-generation sequencing synovial sarcoma targeted therapy

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Area of Science:

Oncology
Molecular Diagnostics
Rare Cancers

Background:

Synovial sarcoma is a rare soft tissue sarcoma.
Standard treatments include chemotherapy, surgery, and radiotherapy.
Relapse after standard treatment necessitates exploring alternative therapeutic strategies.

Observation:

A 15-year-old male presented with relapsed intrathoracic synovial sarcoma.
Molecular analysis revealed a BRAF V600E mutation during third-line treatment.
This mutation is typically rare in synovial sarcoma.

Findings:

Targeted therapy with the BRAF inhibitor Vemurafenib was initiated.
The patient achieved a partial response (PR).
Progression-free survival was 1.6 months, with an overall survival of 19 months.

Implications:

Routine next-generation sequencing (NGS) is crucial for identifying actionable mutations.
Targeted therapies can be effective in specific molecular subtypes of rare cancers.
This case underscores the importance of comprehensive tumor molecular profiling for guiding treatment decisions in relapsed synovial sarcoma.