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Molecular Characterization of Atypical Fibroxanthoma and Pleomorphic Dermal Sarcoma
Jason C Klein1,2, Breelyn A Wilky3, Heide L Ford4
1Department of Dermatology, Memorial Sloan Kettering Cancer Center, New York, NY 10065, USA.
Cancers
|June 13, 2025
Summary
Atypical fibroxanthoma (AFX) and pleomorphic dermal sarcoma (PDS) are rare skin cancers. This review synthesizes molecular data, identifying UV-induced mutations and potential biomarkers like COL6A3 for these sarcomas.
Area of Science:
- Dermatology
- Oncology
- Molecular Biology
Background:
- Atypical fibroxanthoma (AFX) and pleomorphic dermal sarcoma (PDS) are rare dermal sarcomas with varying aggressiveness.
- These tumors, likely mesenchymal, share mutations with squamous cell carcinoma.
- Limited research exists on their molecular profiles due to rarity.
Purpose of the Study:
- To review and synthesize existing molecular data on AFX and PDS.
- To discuss current understanding of molecular drivers and prognostic biomarkers.
- To highlight recent findings from scRNA-seq data.
Main Methods:
- Review of existing datasets including exome and bulk RNA sequencing.
- Analysis of targeted DNA sequencing, DNA methylation, and copy number analyses.
- Inclusion of recent single-cell RNA sequencing (scRNA-seq) data.
Main Results:
- Recurrent UV-induced mutations identified in TP53, NOTCH, CDKN2A, and TERT promoter.
- COL6A3 identified as a novel biomarker in recent scRNA-seq studies.
- Spectrum of AFX and PDS characterized by differing dermal and subcutaneous invasion.
Conclusions:
- Molecular understanding of AFX and PDS is evolving.
- UV-induced mutations play a significant role in tumorigenesis.
- COL6A3 shows promise as a prognostic biomarker for these rare sarcomas.
