Evaluation of tumour surveillance protocols and outcomes in von Hippel-Lindau disease in a national health service.
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Authors
Adlard, Julian
Barwell, Julian
Brady, Angela F
Brennan, Paul
Cook, Jackie
Crawford, Gillian S
Dabir, Tabib
Davidson, Rosemarie
Dyer, Rebecca
Harrison, Rachel
Forde, Claire
Halliday, Dorothy
Hanson, Helen
Hay, Eleanor
Higgs, Jenny
Jones, Mari
Miedzybrodzka, Zosia
Ong, Kai Ren
Pelz, Frauke
Ruddy, Deborah
Snape, Katie
Whitworth, James
Sandford, Richard N
Publication Date
2022-02-19Journal Title
Br J Cancer
ISSN
0007-0920
Publisher
Springer Science and Business Media LLC
Language
eng
Type
Article
This Version
VoR
Metadata
Show full item recordCitation
Maher, E., Adlard, J., Barwell, J., Brady, A. F., Brennan, P., Cook, J., Crawford, G. S., et al. (2022). Evaluation of tumour surveillance protocols and outcomes in von Hippel-Lindau disease in a national health service.. Br J Cancer https://doi.org/10.1038/s41416-022-01724-7
Abstract
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.
Identifiers
35184155, PMC8857742
External DOI: https://doi.org/10.1038/s41416-022-01724-7
This record's URL: https://www.repository.cam.ac.uk/handle/1810/335388
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