What is Dermatofibrosarcoma Protuberans (DFSP)?
Dermatofibrosarcoma Protuberans (DFSP) is a rare, slow-growing type of skin tumour that starts deep in the skin’s soft tissue. It usually appears as a firm, reddish, purplish, or brown lump that gets bigger over time. Although DFSP grows slowly, it can come back if not completely removed. The good news? It almost never spreads to other parts of the body.
What Causes DFSP?
DFSP happens due to a mix-up in genes—specifically between chromosomes 17 and 22. This genetic change causes the COL1A1-PDGFB gene to become overactive, leading skin cells to grow uncontrollably and form a tumour.
Symptoms to Watch For
- A firm, painless lump or patch on the skin
- Grows slowly but steadily over months or years
- Most often found on the torso, but can also appear on the arms, legs, or head
- Changes colour over time, turning reddish, purplish, or brown
How is DFSP Diagnosed?
Doctors use several tests to confirm DFSP:
- Skin biopsy – A small sample of the tumour is taken and examined under a microscope.
- Immunohistochemistry (IHC) – A special test that looks for CD34, a protein commonly found in DFSP cells.
- Genetic testing – Detects the COL1A1-PDGFB gene mutation.
- MRI or CT scan – Helps determine how deep the tumour is and if it affects nearby tissues.
Treatment Options
- Surgery – The best treatment is Mohs micrographic surgery (MMS) or wide local excision, both of which remove the tumour completely and reduce the risk of it coming back.
- Radiation Therapy – Used when the tumour is too large or cannot be fully removed with surgery.
- Targeted Therapy – If surgery isn’t an option, a medication called Imatinib (Gleevec) can block tumour growth by targeting the PDGFB pathway.
What’s the Outlook?
- Early-stage DFSP: If completely removed, the outcome is excellent, with a low risk of recurrence.
- Advanced DFSP: May need additional treatment, but it rarely spreads to other parts of the body.
Regular follow-ups are important to catch any recurrence early, but with proper treatment, most people with DFSP do very well!
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