RESUMO
ABSTRACT Background Papillary cystadenoma is a rare benign neoplasm of the epididymis. It may occur sporadically or in association with von Hippel-Lindau disease (VHLD). Papillary cystadenoma of the epididymis (PCE) is a benign mimic of metastatic clear cell renal cell carcinoma (CCRCC) given their histologic similarities. Case presentation Herein, we present the case of a 40-year-old man with a four-year history of microhematuria and a recently detected right paratesticular mass. A testicular sonogram revealed a hypoechoic, hypervascular solid mass in the right epididymal head treated by surgical excision. Histopathological examination demonstrated a 1.1 cm papillary cystadenoma of the epididymis. Genetic testing performed later showed no signs of VHLD. However, heterozygous mutations in three genes - CASR, POT1, and RAD51D - were found which have never been reported in PCE before. Conclusions Papillary cystadenoma of the epididymis should always be considered in the differential diagnosis of epididymal lesions, especially those that are cystic. The mainstay of treatment remains surgical excision, which provides an excellent prognosis.
RESUMO
Presentamos un caso de cistoadenoma papilar de epidídimo (CPE) en un paciente varón de 44 años de edad con una masa palpable en el escroto derecho. La ecografía (US) y la resonancia magnética (RM) mostraron tres lesiones quísticas adyacentes extratesticulares de paredes gruesas, una con un fino septo parcial interno,de ubicación epididimaria y un diámetro en conjunto de 1 cm x 0,4 cm. El diagnóstico anatomopatológico realizado luego de su resección quirúrgica fue de cistoadenoma papilar de epidídimo. Éste consiste en un tumor epitelial benigno, muy poco frecuente, que se origina del epitelio ductal eferente. Se presenta preferentemente en el adulto joven y puede ser uni o bilateral (un tercio de los casos), así como también esporádico o hereditario en relación con la enfermedad de von Hippel-Lindau, particularmente en el caso de las lesiones bilaterales.Se diagnostica por palpación y métodos por imágenes, incluyendo la ecografía y la resonanacia magnética. Histológicamente se caracteriza por la presencia de espacios quísticos con proyecciones papilares internas, revestidas por células claras, que remedan a las del carcinoma renal. La diferenciación entre éste y el cistoadenoma papilar de epidídimo debe hacerse a través de marcadores inmunohistoquímicos. El tratamiento es la exéresis quirúrgica y un posterior seguimiento, ya que, si bien su pronóstico es excelente, se ha descritosu transformación maligna a cistoadenocarcinoma.
We report a case of papillary cystadenoma of the epididymis (PCE) in a 44-year-old male patient with a palpable right intrascrotal mass. Ultrasound and magnetic resonance imaging showed three extratesticular intraepididymal thick wall-cystic lesions measuring 1.0 x 0.4 cm overall. After surgical resection, the pathological diagnosis was papillary cystadenoma of epididymis. This is a rare benign epithelial tumor that arises from the efferent duct epithelium. It usually occurs in young adult males and it may be unilateral or bilateral (one third of cases) as well as sporadic or hereditary related to von Hippel-Lindau disease (especially bilateral lesions). The diagnosis is made by physical examination and diagnostic imaging (ultrasound and magnetic resonance imaging). Histologically, it is characterized by cystic spaces with internal papillary projections lined by clear cells similar to those of renal cell carcinoma (RCC). Differentiation between papillary cystadenoma of the epididymis and renal cell carcinoma is made by immunohisto-chemical markers. Treatment consists in surgical excision and subsequent follow-up, since, and although, its excellent prognosis, malignant transformation have been reported.