Somatic von hippel-lindau mutation in clear cell papillary cystadenoma of the epididymis

Michael Z. Gilcrease, Laura Schmidt, Berton Zbar, Luan Truong, Michael Rutledge, Thomas M. Wheeler

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53 Scopus citations


Papillary cystadenoma of the epididymis is an uncommon benign lesion that may occur sporadically or as a manifestation of von Hippel-Lindau (VHL) disease. Neither immunohistochemical studies nor molecular genetic analyses of the VHL gene have been reported previously for this lesion. The authors describe two cases of clear cell papillary cystadenoma of the epididymis, both of which were initially confused with metastatic renal cell carcinoma. Both lesions showed positive immunohistochemical staining for low and intermediate molecular weight keratins (Cam 5.2 and AE1/AE3), EMA, vimentin, α1-antitrypsin, and α1-antichymotrypsin. Each was negative for CEA. Because clear cell papillary cystadenoma is similar to renal cell carcinoma histologically, and because both occur as components of the von Hippel-Lindau disease complex, the authors analyzed both cases for the presence of mutations in the VHL gene. A somatic VHL gene mutation was detected in one of the two tumors by polymerase chain reaction followed by single-strand conformation polymorphism analysis. Direct sequencing revealed a cytosine to thymine transition at nucleotide 694, resulting in the replacement of an arginine with a stop codon after the sixth amino acid of exon 3. As the VHL gene is believed to function as a tumor suppressor gene, VHL gene mutations may play a role in the initiation of tumorigenesis in sporadic cystadenomas of the epididymis.

Original languageEnglish (US)
Pages (from-to)1341-1346
Number of pages6
JournalHuman Pathology
Issue number12
StatePublished - Dec 1995


  • clear cell
  • epididymis
  • papillary cystadenoma
  • von Hippel-Lindau disease
  • von Hippel-Lindau gene

ASJC Scopus subject areas

  • Pathology and Forensic Medicine


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