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Progressive metastatic infantile fibrosarcoma with multiple acquired mutations
Larissa V Furtado1, Marija Kacar2, Roya Mostafavi3
1Department of Pathology, St. Jude Children's Research Hospital, Memphis, Tennessee 38105, USA.
Cold Spring Harbor Molecular Case Studies
|March 30, 2023
Summary
Infantile fibrosarcoma, driven by NTRK fusions, can develop resistance to TRK inhibitors. This case reveals acquired TP53, SUFU, and NTRK gatekeeper mutations contributing to aggressive disease progression.
Area of Science:
- Pediatric Oncology
- Molecular Pathology
- Cancer Genomics
Background:
- Infantile fibrosarcoma is the most common pediatric soft-tissue sarcoma, characterized by NTRK fusions.
- While locally invasive, rare metastases can occur, posing treatment challenges.
- NTRK fusions drive tumor formation and are targets for TRK inhibitors, but resistance mechanisms exist.
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