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Clinical and molecular features associated with cystic visceral lesions in von hippel-lindau disease.

Gemenetzi, M, Singh, JS, Sagoo, M, Lightman, S and Taylor, SRJ (2012) Clinical and molecular features associated with cystic visceral lesions in von hippel-lindau disease. The open ophthalmology journal.

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Abstract

Background: Von Hippel-Lindau (VHL) is an uncommon oncogenic disorder which occurs as a result of genetic mutations on chromosome 3p. Retinal capillary haemangiomas and CNS haemangioblastomas have been wellcharacterised in genotypic-phenotypic analyses, but cystic visceral lesions are less common and have been less frequently studied. The aim of this study was to perform genotypic and phenotypic analysis of a cohort of VHL patients that developed cystic visceral lesions to determine whether their genotype differs from that seen in other manifestations of VHL and whether the ocular manifestations differ. Methods: This study reports a prospective case series of twenty-one patients identified from the Hammersmith Hospital Genetics Service database as having VHL mutations. Patients underwent regular ocular and systemic screening as well as genotypic analysis. The main outcome measures were the development of VHL lesions, either ocular or systemic. Results: Cystic visceral lesions were detected in six of the 21 patients from the clinic (29%). These included renal cysts in four patients, pancreatic cysts in three patients, and an epididymal cystadenoma in one patient. Renal cysts were not associated with any specific genotype. Pancreatic cysts appeared to occur in association with VHL gene deletions and all developed CNS haemangioblastomas. Only one patient developed ocular manifestations, which occurred in this patient in the form of two retinal capillary haemangiomas. Conclusions: VHL gene deletions appeared to be associated with pancreatic cysts and the development of CNS haemangioblastomas. Ocular manifestations are uncommon in this group of patients.

Item Type: Article
Subjects : Clinical Medicine
Divisions : Faculty of Health and Medical Sciences > School of Biosciences and Medicine > Department of Clinical and Experimental Medicine
Authors :
AuthorsEmailORCID
Gemenetzi, MUNSPECIFIEDUNSPECIFIED
Singh, JSUNSPECIFIEDUNSPECIFIED
Sagoo, MUNSPECIFIEDUNSPECIFIED
Lightman, SUNSPECIFIEDUNSPECIFIED
Taylor, SRJUNSPECIFIEDUNSPECIFIED
Date : 1 January 2012
Identification Number : 10.2174/1874364101206010083
Additional Information : © Taylor et al.; Licensee Bentham Open. This is an open access article licensed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/bync/3.0/) which permits unrestricted, non-commercial use, distribution and reproduction in any medium, provided the work is properly cited.
Depositing User : Symplectic Elements
Date Deposited : 11 Mar 2016 13:58
Last Modified : 11 Mar 2016 13:58
URI: http://epubs.surrey.ac.uk/id/eprint/810098

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