Evaluation of tumour surveillance protocols and outcomes in von Hippel-Lindau disease in a national health service

Eamonn R. Maher, Julian Adlard, Julian Barwell, Angela F. Brady, Paul Brennan, Jackie Cook, Gillian S. Crawford, Tabib Dabir, Rosemarie Davidson, Rebecca Dyer, Rachel Harrison, Claire Forde, Dorothy Halliday, Helen Hanson, Eleanor Hay, Jenny Higgs, Mari Jones, Fiona Lalloo, Zosia Miedzybrodzka, Kai Ren OngFrauke Pelz, Deborah Ruddy, Katie Snape, James Whitworth, Richard N. Sandford

Research output: Contribution to journalArticlepeer-review


BACKGROUND: Von Hippel-Lindau (VHL) disease is an inherited tumour predisposition syndrome and a paradigm for the importance of early diagnosis and surveillance. However, there is limited information on the "real world" management of VHL disease.

METHODS: A national audit of VHL disease in the United Kingdom.

RESULTS: VHL disease was managed mostly via specialist clinics coordinated through regional clinical genetics services (but frequently involving additional specialties). Over the study period, 19 genetic centres saw 842 individuals (393 males, 449 females) with a clinical and/or molecular diagnosis of VHL disease and 74 individuals (35 male, 39 female) with a prior risk of 50% (affected parent). All centres offered retinal, central nervous system and abdominal surveillance to affected individuals and at-risk relatives though surveillance details differed between centres (but complied with international recommendations). Renal lesions detected on the first surveillance scan were, on average, larger than those detected during subsequent scans and the larger the diameter at detection the greater the likelihood of early intervention.

CONCLUSIONS: In a state-funded health care system individuals with a rare inherited cancer predisposition syndrome are generally able to access appropriate surveillance and patient management is improved compared to historical data. The "real world" data from this study will inform the future development of VHL management protocols.

Original languageEnglish
Pages (from-to)1339-1345
Number of pages7
JournalBritish Journal of Cancer
Issue number9
Early online date19 Feb 2022
Publication statusPublished - 18 May 2022

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