RESUMEN
Myxoid leiomyosarcoma (MLS) is a rare but well-documented tumor that often portends a poor prognosis compared to the conventional leiomyosarcoma. This rare sarcoma has been reported in the uterus, external female genitalia, soft tissue, and other locations. However, a definite rectal MLS has not been reported. Recently five cases of MLS were reported to harbor PLAG1 fusions (TRPS1::PLAG1, RAD51B::PLAG1, and TRIM13::PLAG1). In this report, we present a case of rectal MLS with a novel MIR143HG::PLAG1 fusion detected by RNA next-generation sequencing.
Asunto(s)
Proteínas de Unión al ADN , Leiomiosarcoma , Neoplasias del Recto , Humanos , Leiomiosarcoma/genética , Leiomiosarcoma/patología , Neoplasias del Recto/genética , Neoplasias del Recto/patología , Proteínas de Unión al ADN/genética , Femenino , MicroARNs/genética , Persona de Mediana Edad , Proteínas de Fusión Oncogénica/genéticaRESUMEN
Verrucous carcinoma (VC) is an uncommon, low-grade variant of squamous cell carcinoma. Its benign histologic appearance and indolent course may lead to a delayed diagnosis. We report a rare case of an inverted verrucous carcinoma of the buttock presenting as a slow-growing subcutaneous lesion with a draining sinus and no exophytic component, clinically mimicking abscess and gossypiboma, with magnetic resonance imaging (MRI) and pathologic correlation. Biopsy of the lesional base is mandatory for accurate diagnosis. An enhancement pattern with a convoluted undulating appearance in a subcutaneous lesion displayed on MRI should raise a consideration of inverted VC in the differential diagnosis.