Papillary Cystadenoma of the Epididymis: A Case Report and Review of the Literature

Ko, Yoon Ho; Nuffer, Zachary; Jean-Gilles, Jerome; Dogra, Vikram S.

doi:10.25259/ajs-14-2018

Cited by 2 publications

(3 citation statements)

References 24 publications

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“…12 As mentioned previously, bilateral PCE is pathognomonic of VHLD. 42 In a review of 59 cases of PCE, the latter was associated to VHLD in 29.3% of the cases. 26 Twothirds of the patients were also found to have VHLD with bilateral PCE.…”

Section: Discussionmentioning

confidence: 99%

“…41 PCE can mimic metastatic clear cell renal cell carcinoma (CCRCC), due to the histopathological features that these lesions share such as bright yellow cut surface and similar architecture, as well as clear "glycogen-rich" neoplastic cells in a highly vascularized background upon microscopic examination. 21,42 Interestingly, patients with undiagnosed VHLD may have this as a primary presentation of their disease, 21 prompting genetic testing in any patient with PCE, particularly those with bilateral lesions. This is particularly of utmost importance since PCE does not only resemble CCRCC histologically, but also because both are tumors observed in VHLD.…”

Section: Discussionmentioning

confidence: 99%

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Papillary cystadenoma of the epididymis

Lopez¹,

Bahmad²,

Delgado³

et al. 2022

Autops Case Rep

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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 RAD51Dwere 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.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Papillary cystadenoma of the epididymis

Lopez¹,

Bahmad²,

Delgado³

et al. 2022

Autops Case Rep

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“…It mostly affects young adults and may occur sporadically or in association with VHL (9). More than onethird of the PCE cases reported in the literature have occurred in VHL patients; this correlation is stronger in the case of bilateral tumor presentation (10,11).…”

Section: Discussionmentioning

confidence: 99%

Case report: Obstructive azoospermia as the first presentation of Von Hippel-Lindau disease

Scafa,

Merico,

Ferrara

et al. 2023

Front. Oncol.

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We report the case of a 38-year-old man whose diagnostic workup for primary infertility led to the discovery of obstructive azoospermia due to bilateral papillary cystadenoma of the epididymis (PCE). Given the rarity of this finding and because PCE could be a manifestation of Von Hippel-Lindau disease (VHL), although the patient had no family or personal history of VHL, the VHL gene was tested, and a known pathogenetic variant (c.464-1G>A; p.)? was found. Screening for other Von Hippel-Lindau disease-associated neoplasms revealed bilateral retinal capillary hemangioblastomas, clear cell renal cell carcinoma, and multiple pancreatic cysts. In this case, an accurate diagnostic workup for male infertility allowed the detection of a rare life-threatening syndrome, already presenting with several silent neoplasms. For this reason, this case report may be useful for reproductive medicine specialists in the management of male infertility.

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Papillary Cystadenoma of the Epididymis: A Case Report and Review of the Literature

Cited by 2 publications

References 24 publications

Papillary cystadenoma of the epididymis

Papillary cystadenoma of the epididymis

Case report: Obstructive azoospermia as the first presentation of Von Hippel-Lindau disease

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