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Dermatofibrosarcoma protuberans is a rare, slow-growing cancer of the deeper skin that usually appears as a firm plaque or lump on the trunk and is often mistaken for a scar or cyst for years. Surgery with wide margins cures most people; for the few whose tumour cannot be removed or has spread, the pill imatinib works because almost every one is driven by a single gene fusion it blocks.
Dermatofibrosarcoma protuberans is a low-grade sarcoma of the dermis and subcutis driven in more than nine in ten cases by a translocation fusing COL1A1 to PDGFB, which places the platelet-derived growth factor B gene under a collagen promoter and creates an autocrine loop through the PDGFRB receptor. It presents as a slowly enlarging, indurated plaque or nodule, most often on the trunk or proximal limbs, that infiltrates far beyond its visible edge along fibrous septa. About one in ten tumours contains a fibrosarcomatous component, which raises the recurrence and metastatic risk; metastasis, mostly to lung, otherwise occurs in fewer than one in twenty patients. The pigmented Bednar variant and the giant cell fibroblastoma of children are related tumours with the same fusion.
Surgery is the treatment: wide excision with 2 to 3 centimetre margins to fascia, or Mohs micrographic surgery or its slow variant with paraffin sections, which lets the surgeon trace the finger-like extensions and gives the lowest recurrence rates. Recurrence is a function of margin status, so re-excision of involved margins is standard, and radiotherapy is added when clear margins cannot be achieved at sites such as the head and neck. Fibrosarcomatous tumours are followed with imaging for lung metastases.
Imatinib, which inhibits PDGFRB, produced responses in about half of the 24 patients with unresectable or metastatic disease in the pooled EORTC 62027 and SWOG S0345 phase 2 trials, and was approved for unresectable, recurrent or metastatic dermatofibrosarcoma protuberans in October 2006, one of the first uses of a targeted drug chosen by a fusion. It is also given before surgery to shrink large or awkwardly placed tumours and reduce the defect. Fusion-negative tumours do not respond, so confirming the COL1A1-PDGFB fusion by FISH or sequencing is required before treatment; sunitinib and pazopanib have activity after imatinib failure, and fibrosarcomatous or metastatic disease may need sarcoma-type chemotherapy.
Dermatofibrosarcoma protuberans is a rare sarcoma of the skin, about four cases per million people a year, commonest in adults aged 20 to 50 and roughly twice as common in Black people; it is slow-growing and rarely spreads, but it recurs locally if not excised with wide margins.
Each skin cancer comes from a different cell layer: melanocytes and basal cells at the base of the epidermis, keratinocytes above them, Merkel cells and blood vessels in the dermis; depth of invasion decides the risk.
Same organ: Melanoma, Basal cell carcinoma, Cutaneous squamous cell carcinoma, Merkel cell carcinoma, Kaposi sarcoma, Skin cancer (all types), BRAF V600-mutant melanoma, Stage III melanoma (after surgery), Stage IIB and IIC melanoma, Advanced melanoma (unresectable stage III and stage IV), Mucosal melanoma, Acral melanoma, Advanced cutaneous squamous cell carcinoma, Locally advanced and metastatic basal cell carcinoma, Bowen's disease (squamous cell carcinoma in situ)
Wide local excision with 2 to 3 cm margins to fascia, or Mohs micrographic surgery with complete circumferential margin assessment; re-excision for involved margins.
Adjuvant radiotherapy to the tumour bed.
Imatinib after confirming the COL1A1-PDGFB fusion (EORTC 62027 and SWOG S0345); surgery after response where feasible.
Imatinib for several months to shrink large or facial tumours before excision.
Sunitinib or pazopanib; sarcoma-type chemotherapy with doxorubicin for metastatic fibrosarcomatous disease.
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Imatinib is the standard systemic treatment for unresectable, recurrent or metastatic dermatofibrosarcoma protuberans and is used neoadjuvantly to shrink large tumours before surgery.
COL1A1-PDGFB fusion testing confirms the diagnosis, and the fusion's dependence on PDGF receptor beta signalling is the rationale for imatinib.
Query for this cancer: (TITLE:"Dermatofibrosarcoma protuberans" OR ABSTRACT:"Dermatofibrosarcoma protuberans" OR TITLE:"DFSP" OR ABSTRACT:"DFSP" OR TITLE:"Bednar tumour pigmented dermatofibrosarcoma protuberans" OR ABSTRACT:"Bednar tumour pigmented dermatofibrosarcoma protuberans" OR TITLE:"Fibrosarcomatous dermatofibrosarcoma protuberans" OR ABSTRACT:"Fibrosarcomatous dermatofibrosarcoma protuberans") AND (treatment OR therapy OR trial OR survival OR diagnosis). Results are unfiltered search hits about Dermatofibrosarcoma protuberans, not a curated reading list.
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Fainting, near-fainting, or an irregular or racing heartbeat; several kinase inhibitors prolong the QT interval and the labels require ECG and electrolyte monitoring.
Sudden severe abdominal pain, a hard or very tender abdomen, or abdominal pain with vomiting and fever. Boxed warning for gastrointestinal perforation on bevacizumab.
Bleeding that does not stop by itself, bleeding from more than one site, or new bruising in several places or one large area.
QT: both Sunitinib and Pazopanib prolong the QT interval (known and known risk).. Avoid other QT-prolonging drugs where possible; check ECG and correct potassium and magnesium before and during treatment.
Cumulative dose: risk rises steeply above 400-550 mg/m² (see the anthracycline calculator).
Take with a meal and a large glass of water.
See all on the product pages:DoxorubicinImatinibPazopanibSunitinib·Printable cards in the navigator
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