Dermatofibrosarcoma protuberans

Other Names: DFSP; Giant cell fibroblastoma; Familial dermatofibrosarcoma protuberans (subtype); Metastatic dermatofibrosarcoma protuberans (subtype)

Dermatofibrosarcoma protuberans is an uncommon cancer in which tumors arise in the deeper layers of skin. The tumor usually starts as a small, firm patch of skin; it may be purplish, reddish, or flesh-colored. It is commonly found on the torso, usually in the shoulder and chest area. The tumor typically grows slowly but has a tendency to recur after being removed. It rarely spreads to other parts of the body. These tumors are related to giant cell fibroblastomas.

Cause

The cause of DFSP is unknown but an injury to the affected skin may be a predisposing factor.Trauma at the affected site has been reported in approximately 10-20% of patients.

Genetics and inheritance

Recent advances have shown that in approximately 90% of cases, dermatofibrosarcoma protuberans is associated with a rearrangement (translocation) of genetic material between chromosomes 17 and 22 which results in the fusion of two genes. The fused gene produces a protein which some believe may stimulate cells to multiply, leading to the tumor formation seen in dermatofibrosarcoma protuberans. This type of gene change is generally found only in tumor cells and is not inherited.

Symptoms

or most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. 80%-99% of people have these symptoms

• Erythema
• Fibrosarcoma
• Neoplasm of the skin(Skin tumors)
• Subcutaneous nodule(Firm lump under the skin)
• Thickened skin(Thick skin)

30%-79% of people have these symptoms

• Skin ulcer(Open skin sore)

Diagnosis

DFSP is a malignant tumor diagnosed with a biopsy, when a portion of the tumor is removed for examination. In order to ensure that enough tissue is removed to make an accurate diagnosis, the initial biopsy of a suspected DFSP is usually done with a core needle or a surgical incision. Magnetic resonance imaging (MRI) is more sensitive addressing the depth of the invasion on some types of DFSP, particularly large or recurring tumors.

Treatment

Treatment is primarily surgical(Mohs surgery), with chemotherapy and radiation therapy used if clear margins are not acquired.

The medication(s) listed below have been approved by the Food and Drug Administration (FDA) as orphan products for treatment of this condition.

• Imatinib mesylate (Brand name: Gleevec®)Treatment of adult patients with unresectable, recurrent and/or metastatic dermatofibrosarcoma protuberans (DFSP)

Prognosis

Regular follow-up is needed after tumor removal to monitor for recurrence. Local recurrences arise in 11-20% of cases, usually within three years of the initial surgery. Despite being locally aggressive, the tumor spreads to other parts of the body (metastasizes) in only 5% of cases. A small subset of patients with DFSP have a more aggressive variant known as fibrosarcomatous dermatofibrosarcoma protuberans or FS-DFSP. FS-DFSP tumors are more likely to metastasize than the tumors in other types of dermatofibrosarcoma protuberans.

Additional images

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  Subcutaneous tissue infiltration (i.e. "honeycomb" growth pattern)

• 

  Monotonous, plexiform structure of tumour

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  DFSP formed both by fibroblastic and histiocytic elements

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  Hemosiderin deposits beneath the tumour

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  Immunostain positive for CD34

NIH genetic and rare disease info

• NIH info on Dermatofibrosarcoma protuberans

Dermatofibrosarcoma protuberans is a rare disease.

Dermatofibrosarcoma protuberans Resources
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