Papillary cystadenoma of epididymis: Component of von hippel-lindau syndrome

Gruber, Michael B.; Healey, Gordon B.; Toguri, Allan G.; Warren, Michael M.

doi:10.1016/0090-4295(80)90053-9

Cited by 20 publications

(8 citation statements)

References 5 publications

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“…The histopathology of the tumors included in this study was strikingly similar with that of benign cystadenomas of the pancreas and epididymis that frequently occur in VHL (32,33). Furthermore, malignant tumor formation in the VHL kidney may also be preceded by benign cyst formation.…”

Section: Discussionmentioning

confidence: 54%

Effects of VHL Deficiency on Endolymphatic Duct and Sac

et al. 2005

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The von Hippel-Lindau (VHL) disease is caused by VHL germ line mutation. Inactivation of the wild-type copy of the VHL gene leads to up-regulation of hypoxic response and tumor formation within central nervous system (CNS), kidneys, pancreas, adrenal glands, epididymis, broad ligament, and the endolymphatic sac/petrous bone. Endolymphatic sac tumors (ELST) have been proposed to be derived from endolymphatic sac epithelium, but other possible structures of origin have been implicated. To clarify the anatomic and cellular origin of ELSTs, we did a morphologic and molecular pathologic analysis of 16 tumors. In addition, we investigated effects of VHL deficiency on ''tumor-free'' endolymphatic duct and sac of VHL patients. Several tumors included in this study were <1 cm in size, and their origin could be placed in the intraosseous portion of the endolymphatic duct/sac. Furthermore, by analysis of clinically uninvolved ''tumor-free'' endolymphatic duct and sac tissues of VHL patients, we discovered a variety of VHL-deficient microscopic abnormalities with morphologic similarities to ELSTs. We conclude that most, if not all, ELSTs arise within the intraosseous portion of the endolymphatic duct/sac, the vestibular aqueduct. In analogy to renal parenchyma and selected topographical sites within the CNS, endolymphatic duct/sac epithelia are preferentially and multifocally targeted in VHL disease. The primary effect of VHL deficiency on human endolymphatic duct/sac epithelium seems to be the generation of multifocal sites of VHL-deficient cell proliferations from which tumorigenesis may or may not occur. Therefore, inactivation of the VHL wild-type allele seems necessary but not sufficient for the formation of tumor. (Cancer Res 2005; 65(23): 10847-53)

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Section: Discussionmentioning

confidence: 54%

Effects of VHL Deficiency on Endolymphatic Duct and Sac

et al. 2005

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“…The onset of VHL disease occurs at a mean age of 26 years [Maher et al, 1990b]. VHL patients can develop hemangioblastomas of the central nervous system (CNS) and/or retina, clear cell renal cell carcinomas (RCC), endocrine neoplasia of the adrenal gland (pheochromocytoma), low-grade adenocarcinomas of the temporal bone, also known as endolymphatic sac tumors (ELST), epididymal or broad ligament cystadenomas, and/or pancreatic tumors [Gruber et al, 1980;Kaelin, 2007;Maher, 2004;Neumann and Wiestler, 1991]. In addition to the inherited risk for developing cancer, VHL patients develop cystic disease in various organs including the kidney, pancreas, and liver [Hough et al, 1994;Lubensky et al, 1998;Maher et al, 1990b;Maher, 2004].…”

Section: Introductionmentioning

confidence: 99%

Genetic analysis of von Hippel-Lindau disease

et al. 2010

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Mutations in the von Hippel-Lindau (VHL) gene are responsible for VHL disease, congenital polycythemia, and are found in many sporadic tumor types as well. Reports of VHL mutations are dispersed throughout original articles and databases that have not been recently updated. We compiled a comprehensive mutation table of 1,548 germline and somatic VHL mutations, derived from this protein of only 213 amino acids. We describe detailed phenotype and gene mutation information for 945 VHL families, including 30 previously unpublished kindreds from The Netherlands (six novel mutations). These data represent the most extensive catalog of germline VHL mutations to date. We also review VHL disease, known and theorized pathogenesis of common VHL manifestations, and genotype-phenotype correlations. Analysis of all VHL families, excluding germline mutations resulting in congenital polycythemias, describes the spectrum of mutation types: 52% missense, 13% frameshift, 11% nonsense, 6% in-frame deletions/insertions, 11% large/complete deletions, and 7% splice mutations. This easy-to-use compilation of VHL mutations is intended to facilitate research and function as a necessary adjunct for physicians when providing patient information. Hum Mutat 31:521-537,

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“…Cystadenomas develop in the epididymis unilaterally or bilaterally in 25–60% of males who have VHL (Gruber et al, 1980; Lonser et al, 2003a). These tumors are benign and rarely need surgical resection.…”

Section: Visceral Lesionsmentioning

confidence: 99%