- Dermatofibrosarcoma protuberans
Dermatofibrosarcoma protuberans Classification and external resources
Histopathological image of dermatofibrosarcoma protuberans. Local recurrence long after the first excision. H&E stain.
ICD-10 C49 (ILDS C49.M24) ICD-9 8832/3 ICD-O: 8833/3 OMIM 607907 DiseasesDB 31601 eMedicine derm/97 MeSH D018223
Dermatofibrosarcoma protuberans (DFSP)  is a very rare tumor. It is a rare neoplasm of the dermis layer of the skin, and is classified as a sarcoma. There is only about 1 case per million per year. DFSP is a fibrosarcoma, more precisely a cutaneous soft tissue 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. It occurs most often in adults in their thirties; it has been described congenitally, in children, and the elderly. It accounts for approximately 2-6% of soft tissue sarcoma cancers.
About 90% of DFSPs are low grade sarcomas. About 10% are mixed; they contain a high-grade sarcomatous component (DFSP-FS); therefore, they are considered to be intermediate-grade sarcomas. All DFSPs rarely lead to a metastasis (fewer than 5% do metastasise), but DFSPs can recur locally. DFSPs most often arise in patients who are in their thirties, but sometimes have been described in children or the elderly.
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.
Treatment is primarily surgical, with chemotherapy and radiation therapy sometimes being used.
The NCCN guideline recommends CCPDMA or Mohs surgery for the best cure rate of DFSP.
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.
The standard of care for patients with DFSP is surgery. Usually, complete surgical resection with wide margins is performed. The addition of adjuvant radiotherapy (irradiation) improves local control in patients with close or positive margins during the surgery. A special surgical technique, the "Mohs micrographic surgery" (MMS), can be employed in patients with DFSP. MMS is technically possible if the DFSP is in an anatomically confined area. A high probability of cure of DFSP can be attained with MMS as long as the final margins are negative. Patients who have a recurrent DFSP can have further surgery, but the probability of adverse effects of surgery and/or metastasis is increased in these patients.
Imatinib is approved for treatment. As all medicinal drugs which have a name that ends on -ib, imatinib is a small molecular pathway inhibitor; imatinib inhibits tyrosine kinase. It may be able to induce tumor regression in patients with recurrent DFSP, unresectable DFSP or metastatic DFSP. There is clinical evidence that imatinib, which inhibits PDGF-receptors, may be effective for tumors positive for the t(17;22) translocation.
- ^ Mendenhall WM, Zlotecki RA, Scarborough MT (December 2004). "Dermatofibrosarcoma protuberans". Cancer 101 (11): 2503–8. doi:10.1002/cncr.20678. PMID 15503305. http://www3.interscience.wiley.com/journal/109720419/abstract. Review.
- ^ "Dorlands Medical Dictionary:dermatofibrosarcoma". http://www.mercksource.com/pp/us/cns/cns_hl_dorlands_split.jsp?pg=/ppdocs/us/common/dorlands/dorland/three/000028732.htm.
- ^ "dermatofibrosarcoma" at Dorland's Medical Dictionary
- ^ Sirvent N, Maire G, Pedeutour F (May 2003). "Genetics of dermatofibrosarcoma protuberans family of tumors: from ring chromosomes to tyrosine kinase inhibitor treatment". Genes Chromosomes Cancer 37 (1): 1–19. doi:10.1002/gcc.10202. PMID 12661001.
- ^ Patel KU, Szabo SS, Hernandez VS, et al. (February 2008). "Dermatofibrosarcoma protuberans COL1A1-PDGFB fusion is identified in virtually all dermatofibrosarcoma protuberans cases when investigated by newly developed multiplex reverse transcription polymerase chain reaction and fluorescence in situ hybridization assays". Hum. Pathol. 39 (2): 184–93. doi:10.1016/j.humpath.2007.06.009. PMID 17950782. http://linkinghub.elsevier.com/retrieve/pii/S0046-8177(07)00348-6.
- ^ http://wwwu.tsgh.ndmctsgh.edu.tw/commcpc/images/nccn/dfsp%20NCCN%202004.pdf
- ^ Gloster HM, Harris KR, Roenigk RK (July 1996). "A comparison between Mohs micrographic surgery and wide surgical excision for the treatment of dermatofibrosarcoma protuberans". J Am Acad Dermatol. 35 (1): 82–7. PMID 8682970.
- humpath #346 (Pathology images)
- Dermatofibrosarcoma Protuberans in the Sarcoma Learning Center
- Thesis on DFSP
Connective/soft tissue tumors and sarcomas (ICD-O 8800–9059) (C45–C49/D17–D21, 171/214–215) Not otherwise specified (8800–8809) Connective tissue neoplasmFibromatous (8810–8839)Fibroma/fibrosarcoma: Dermatofibrosarcoma · Dermatofibrosarcoma protuberans · Desmoplastic fibromaFibroma/fibromatosis: Aggressive infantile fibromatosis · Aponeurotic fibroma · Collagenous fibroma · Diffuse infantile fibromatosis · Familial myxovascular fibromas · Fibroma of tendon sheath · Fibromatosis colli · Infantile digital fibromatosis · Juvenile hyaline fibromatosis · Plantar fibromatosis · Pleomorphic fibroma · Oral submucous fibrosisHistiocytoma/histiocytic sarcoma: Benign fibrous histiocytoma · Malignant fibrous histiocytoma · Atypical fibroxanthomaSolitary fibrous tumorMyxomatous (8840–8849)Myxoma/myxosarcoma (Cutaneous myxoma, Superficial acral fibromyxoma) · Angiomyxoma · Ossifying fibromyxoid tumourFibroepithelial (9000–9039)Synovial-like (9040–9049) Lipomatous (8850–8889)Chondroid lipoma · Intradermal spindle cell lipoma · Pleomorphic lipoma · Benign lipoblastomatosis · Spindle cell lipoma · Hibernoma Myomatous (8890–8929)general: Myoma/myosarcomaskeletal muscle: Rhabdomyoma/rhabdomyosarcoma: Embryonal rhabdomyosarcoma (Sarcoma botryoides) · Alveolar rhabdomyosarcomaLeiomyoma · Angioleiomyoma · Angiolipoleiomyoma · Genital leiomyoma · Leiomyosarcoma · Multiple cutaneous and uterine leiomyomatosis syndrome · Multiple cutaneous leiomyoma · Neural fibrolipoma · Solitary cutaneous leiomyoma Complex mixed and stromal (8930–8999)Adenomyoma · Pleomorphic adenoma · Mixed Müllerian tumor · Mesoblastic nephroma · Wilms' tumor · Rhabdoid tumour · Clear-cell sarcoma of the kidney · Hepatoblastoma · Pancreatoblastoma · Carcinosarcoma Mesothelial (9050–9059)see also Template:Connective tissue Tumors: Skin neoplasm, dermis (C44/D23, 173/216) DermisBenign fibrous histiocytoma/dermatofibrosarcoma · Dermatofibrosarcoma protuberans Subcutaneous
vascularsee Template:Soft tissue tumors and sarcomas, Template:Vascular tumors, Template:Myeloid malignancy (for mastocytosis)Otherurogenital: Hirsuties papillaris genitalisneuro: Solitary neurofibroma · Cutaneous meningioma · Ganglioneuroma · Schwannoma · Palisaded encapsulated neuroma · Infantile neuroblastoma · Neuroma cutisbone/cartilage: Chordoma · Extraskeletal chondromanevus: Nevus anemicus · Nevus flammeus · Nevus flammeus nuchae · Nevus lipomatosus superficialis · Nevus oligemicus · Connective tissue nevus · Midline nevus flammeus · Porokeratotic eccrine ostial and dermal duct nevushistiocytoma: Malignant fibrous histiocytoma · Plexiform fibrohistiocytic tumor · Progressive nodular histiocytomaTeratoma · Adenoma sebaceum · Metastatic carcinoma · Giant cell tumor of the tendon sheath · Glomus tumor · Granular cell tumor · Carcinoid · Desmoid tumor · Neurothekeoma · Solitary angiokeratoma · Zosteriform metastasis · Keratinizing metaplasia · Epithelioid sarcomaCategories:
- Dermal and subcutaneous growths
- Rare cancers
- Oncology stubs
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