Lopez Olga, Bahmad Hisham F, Delgado Ruben, Cordon Billy H, Poppiti Robert, Howard Lydia
Florida International University, Herbert Wertheim College of Medicine, Miami, FL, USA.
Mount Sinai Medical Center, Arkadi M. Rywlin M.D. Department of Pathology and Laboratory Medicine, Miami Beach, FL, USA.
Autops Case Rep. 2022 Apr 14;12:e2021374. doi: 10.4322/acr.2021.374. eCollection 2022.
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.
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 - , , and - were found which have never been reported in PCE before.
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.
乳头状囊腺瘤是一种罕见的附睾良性肿瘤。它可散发性发生，也可与冯·希佩尔-林道病（VHLD）相关。鉴于其组织学相似性，附睾乳头状囊腺瘤（PCE）是转移性透明细胞肾细胞癌（CCRCC）的一种良性模仿病变。
在此，我们报告一例40岁男性，有4年镜下血尿病史，近期发现右侧睾丸旁肿块。睾丸超声检查显示右侧附睾头部有一个低回声、高血管实性肿块，通过手术切除进行治疗。组织病理学检查显示为附睾1.1厘米的乳头状囊腺瘤。随后进行的基因检测未显示VHLD迹象。然而，发现三个基因存在杂合突变—— 、 和 ，这些基因在PCE中以前从未有过报道。
在附睾病变的鉴别诊断中，尤其是囊性病变，应始终考虑附睾乳头状囊腺瘤。治疗的主要方法仍然是手术切除，其预后良好。
