Von Hippel-Lindau disease: an evaluation of natural history and functional disability

Neuro-oncology
Alberto FelettiGiuseppe Opocher

Abstract

Although many studies have been published about specific lesions characterizing von Hippel-Lindau(VHL) disease, none have dealt with the natural history of the whole disease and the consequent disabilities. We aim to define the comprehensive natural history of VHL disease and to describe the functional disabilities and their impact upon patients' quality of life, thereby tailoring the follow-up schedule accordingly. We performed a prospective analysis on 128 VHL-affected patients beginning in 1996. For each affected organ, we defined intervals between the first and subsequent VHL-related manifestations and compared them with current VHL surveillance protocols. We looked for any association of the number of involved organs with age, sex, type of VHL gene mutation, and functional domain mutation. Ultimately, we assessed the organ-specific disabilities caused by VHL disease. Hemangioblastomas show different patterns of progression depending on their location, whereas both renal cysts and carcinomas have similar progression rates. Surgery for pheochromocytoma and CNS hemangioblastoma is performed earlier than for pancreatic or renal cancer. The number of involved organs is associated with age but not with sex, type of VHL gene muta...Continue Reading

References

Jul 1, 1991·Journal of Medical Genetics·E R MaherN Morton
Nov 1, 1990·The Quarterly Journal of Medicine·E R MaherM A Ferguson-Smith
Mar 21, 2001·Human Molecular Genetics·C A Friedrich
Nov 14, 2001·The Netherlands Journal of Medicine·F J HesC J Lips
Sep 5, 2002·Nature Reviews. Cancer·William G Kaelin
Jan 1, 2003·Seminars in Cancer Biology·Christopher William Pugh, Peter John Ratcliffe
Jun 20, 2003·Lancet·Russell R LonserEdward H Oldfield
May 11, 2005·Familial Cancer·Giuseppe OpocherFranco Mantero
Sep 29, 2006·Journal of Human Genetics·Maddalena MartellaAlessandra Murgia
Oct 7, 2006·Human Mutation·Kai Ren OngEamonn R Maher
Nov 24, 2006·Clinical Endocrinology·Anne-Paule Gimenez-RoqueploUNKNOWN European Network for the Study of Adrenal Tumours (ENS@T) Pheochromocytoma Working Group
Sep 14, 2011·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Marie Louise Mølgaard PoulsenMarie Luise Bisgaard

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Citations

Aug 20, 2016·Journal of Medical Genetics·Marie Louise Mølgaard BinderupMarie Luise Bisgaard
Jun 27, 2017·American Journal of Medical Genetics. Part a·Karoline LaunbjergMarie Louise M Binderup
Jan 18, 2018·The British Journal of Surgery·H M RossittiO Gimm
Jul 9, 2020·Acta neurologica Belgica·Huanyu WangQuanfeng Ma
Jun 18, 2017·Clinical Cancer Research : an Official Journal of the American Association for Cancer Research·Surya P RednamJonathan D Wasserman
Apr 30, 2020·Journal of Neurosurgical Sciences·Giacomo PavesiUNKNOWN VHL-Padova Network
Nov 25, 2021·The New England Journal of Medicine·Manuela Schmidinger

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