From Wikipedia, the free encyclopedia
|
Dermatofibrosarcoma protuberans |
|
Classification and external resources |
Histopathological image of dermatofibrosarcoma
protuberans. Local recurrence long after the first excision.
H&E stain. |
| ICD-O: |
8833/3 |
| OMIM |
607907 |
| DiseasesDB |
31601 |
| eMedicine |
derm/97 |
Dermatofibrosarcoma protuberans (DFSP) is a
rare neoplasm of the dermis layer of the skin,
[1] and is classified as a sarcoma. In many respects, the
disease behaves as a benign tumor, but in 2-5% of cases it can metastasize, so it should
be considered to have malignant potential.
Pathophysiology
Over 90% of DFSP tumors have the chromosomal translocation
t(17;22). The translocation fuses the collagen gene
(COL1A1)
with the platelet-derived growth factor gene. The fibroblast, the cell of origin of
this tumor, expresses the fusion gene in the belief that it codes for
collagen. However the resulting fusion protein is processed into mature
platelet-derived
growth factor which is a potent growth factor. Fibroblasts contain the receptor for this growth
factor. Thus the cell "thinks" it is producing a structural protein, but in fact produces a
self-stimulatory growth signal. The cell divides rapidly and a tumor
forms.
The tissue is often positive for CD34.[2][3]
Treatment
Treatment is primarily surgical, with chemotherapy and radiation
therapy sometimes being used.
There is clinical evidence that imatinib, which inhibits PDGFB, may be effective for tumors positive for
the t(17;22) translocation.
MOHS surgery can be extremely effective. It
will remove the tumor and all related pathological cells without a
wide-area excision that may overlook sarcoma cells that have
penetrated muscle tissue.
it is very rare among children, but occasional cases have been
repoted
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