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Dermatofibrosarcoma protuberans in children: an update on the diagnosis and treatment
Rachel I Kornik1, Lisa K Muchard, Joyce M Teng
1Department of Dermatology, University of Wisconsin Hospital and Clinics, Madison, Wisconsin 53715, USA.
Insights
Dermatofibrosarcoma protuberans (DFSP) is a rare pediatric cancer. Early diagnosis and understanding its genetics are key for effective treatment, including surgery and targeted therapies.
Area of Science:
- Oncology
- Dermatology
- Molecular Genetics
Background:
- Dermatofibrosarcoma protuberans (DFSP) is a rare, low-grade malignant fibrohistiocytic tumor.
- Pediatric DFSP presents diagnostic and management challenges due to heterogeneous clinical appearance.
Purpose of the Study:
- To review the clinical features, histology, genetics, and treatment of pediatric Dermatofibrosarcoma protuberans.
- To highlight the importance of early diagnosis and novel therapeutic approaches for DFSP in children.
Main Methods:
- Histologic examination with immunostains for diagnosis.
- Molecular genetic analysis, including PCR and FISH, for detecting specific translocations.
- Review of current and emerging treatment modalities.
Main Results:
- DFSP diagnosis requires a high index of suspicion and histological confirmation.
- A specific translocation involving PDGFB and COL1A1 is implicated in DFSP pathogenesis.
- Surgery remains the primary treatment, with targeted therapy showing promise for advanced cases.
Conclusions:
- Accurate diagnosis of pediatric DFSP relies on clinical suspicion, histology, and molecular diagnostics.
- Management strategies are evolving, incorporating targeted therapies like imatinib mesylate.
- Comprehensive knowledge of DFSP is crucial for optimizing patient outcomes.
Abstract:
Dermatofibrosarcoma protuberans (DFSP) is a fibrohistiocytic tumor of low grade malignant potential. Although rare, pediatric cases pose a particular challenge in diagnosis and management. In children, the clinical appearance may be heterogeneous and a high index of suspicion is necessary to avoid delays in diagnosis which can lead to further morbidity. Histologic examination, often with the use of appropriate immunostains, is necessary for diagnosis. Advances in the understanding of the molecular genetics of DFSP have led to further diagnostic and therapeutic modalities. DFSP is thought to result from a translocation between platelet-derived growth factor beta (PDGFB, 22q13.1) and type 1 collagen (COL1A1, 17q21≈22) leading to a fusion protein (PDGFB) which stimulates the PDGF receptor. Detection of this translocation in tissue via PCR or fluorescence in situ hybridization (FISH) can be helpful in difficult cases. While surgery with wide local excision or Mohs micrographic surgery is the mainstay of treatment, the use of targeted therapy with imatanib mesylate shows promise in large or unresectable tumors. Knowledge of the clinical features, histology, genetics, and treatment options is important for successful management of these tumors.
