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Dermatofibrosarcoma protuberans with platelet-derived growth factor-D rearrangement; two cases with morphologically
Katelynn Campbell1, Julia A Bridge2, Dominick DiMaio3
1Department of Pathology, University of Arkansas for Medical Sciences, Little Rock, Arkansas, USA.
Journal of Cutaneous Pathology
|October 10, 2021
Summary
Dermatofibrosarcoma protuberans (DFSP) can involve PDGFD gene rearrangements, not just the typical COL1A1-PDGFB fusion. Testing for PDGFD rearrangement is crucial for diagnosing DFSP when standard tests are negative.
Area of Science:
- Oncology
- Genetics
- Dermatopathology
Background:
- Dermatofibrosarcoma protuberans (DFSP) is a rare, locally aggressive skin neoplasm.
- DFSP is typically associated with a COL1A1-PDGFB gene fusion due to a 17;22 translocation.
- Fibrosarcomatous transformation in DFSP may increase metastatic potential.
Observation:
- Two morphologically distinct DFSP cases with PDGFD rearrangement are presented.
- Case 1: A subcutaneous nodule with herringbone pattern diagnosed as fibrosarcomatous DFSP.
- Case 2: A lesion with classic DFSP features including storiform growth and fat entrapment.
Findings:
- Both DFSP cases lacked COL1A1-PDGFB fusion but showed PDGFD rearrangement via fluorescence in situ hybridization (FISH).
- Morphological diversity was observed despite the shared genetic finding.
Implications:
- PDGFD rearrangement represents a variant genetic mechanism in DFSP.
- FISH testing for PDGFD rearrangement is recommended for suspected DFSP cases negative for COL1A1-PDGFB fusion.
- This expands diagnostic possibilities for challenging DFSP presentations.
