RESUMO
El dermatofibrosarcoma protuberans es un sarcoma de bajo grado que típicamente se origina en dermis con extensión local a tejido celular subcutáneo y músculo. Presentamos un dermatofibrosarcoma protuberans perianal en un varón de 41 años que le ocasionaba proctalgia y estreñimiento, y revisamos la literatura científica. El interés del caso reside fundamentalmente en la excepcionalidad de que un dermatofibrosarcoma protuberans se presente en región perianal (solo 2 casos previamente descritos) y en esa línea, en la dificultad del manejo quirúrgico en dicha topografía. El reordenamiento t(17;22)(q22;q13) con el resultado de la fusión génica COL1A1/PDGFß en estos tumores no solo es una característica de utilidad diagnóstica; también, otorga una alternativa terapéutica en casos inoperables o metastásicos con el uso de imatinib
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/PDGFß 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
Assuntos
Humanos , Masculino , Adulto , Dermatofibrossarcoma/patologia , Neoplasias do Ânus/patologia , Imuno-Histoquímica/métodos , Neoplasias do Ânus/cirurgia , Margens de Excisão , Biópsia/métodosRESUMO
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/PDGFß 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.