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[Perianal dermatofibrosarcoma protuberans: a case report, review and update]
Francisco Javier Velasco Albendea1, Javier Doña Girón1, Manuel Luis Blanco Villar2
1Unidad Funcional de Anatomía Patológica, UGC de Laboratorios, Complejo Hospitalario Torrecárdenas, Almería, España.
Abstract:
Dermatofibrosarcoma protuberans is a low-grade sarcoma typically originating in the dermis but with local invasion of subcutaneous cell and muscle tissue. We report a case of perianal dermatofibrosarcoma protuberans in a 41-year-old male complaining of anal pain and constipation. To date, only two cases of perianal dermatofibrosarcoma protuberans have been reported. The unusual location hinders surgical treatment. The characteristic translocation t(17;22)(q22;q13) leading to the formation of COL1A1/PDGFβ fusion transcripts is not only of diagnostic value but also enables an alternative imatinib-based therapy in inoperable or metastatic cases. The pertinent literature is reviewed.
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