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Uterine fibrosarcomatous dermatofibrosarcoma protuberans (FS-DFSP) with COL1A1::PDGFB fusion and concurrent TP53/ERBB2 mutations: Case report and molecular characterization

  • 0Department of Surgical Pathology, Women's Hospital, School of Medicine, Zhejiang University, Hangzhou, Zhejiang Province, China.
Pathology, Research and Practice +

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August 6, 2025

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August 6, 2025

View abstract on PubMed

Summary

This summary is machine-generated.

This study details a rare high-grade uterine sarcoma, a fibrosarcoma-like dermatofibrosarcoma protuberans (DFSP), with a COL1A1::PDGFB fusion. The findings reveal concurrent TP53 and ERBB2 mutations, offering new therapeutic insights.

Area Of Science

  • Oncology
  • Pathology
  • Genetics

Background

  • Dermatofibrosarcoma protuberans (DFSP) is a rare cutaneous soft tissue sarcoma.
  • High-grade variants and uterine DFSP are exceptionally rare and poorly understood.
  • The COL1A1::PDGFB fusion is a known driver in some DFSP cases.

Observation

  • A 39-year-old woman presented with a high-grade uterine sarcoma.
  • Morphological analysis revealed features consistent with fibrosarcomatous DFSP (FS-DFSP).
  • Immunohistochemistry showed variable CD34, focal desmin/SMA, and aberrant p53 expression.

Findings

  • Targeted sequencing identified a COL1A1-PDGFB fusion, a pathogenic TP53 mutation (p.P278A), and an ERBB2 mutation (p.V842I).
  • Dual-color fluorescence in situ hybridization confirmed the COL1A1-PDGFB fusion.
  • This is the first report of high-grade uterine DFSP with concurrent TP53 and ERBB2 mutations.

Implications

  • This case expands the known molecular landscape of uterine DFSP.
  • The identified mutations suggest potential therapeutic strategies targeting PDGFR and HER2 pathways.
  • Further research is warranted to explore dual inhibition therapies for aggressive DFSP.

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