Maher, Eamonn R., 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, Lalloo, Fiona, Miedzybrodzka, Zosia, Ong, Kai Ren, Pelz, Frauke, Ruddy, Deborah, Snape, Katie, Whitworth, James and Sandford, Richard N. (2022). Evaluation of tumour surveillance protocols and outcomes in von Hippel-Lindau disease in a national health service. British Journal of Cancer, 126 (9), pp. 1339-1345.
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.
Publication DOI: | https://doi.org/10.1038/s41416-022-01724-7 |
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Divisions: | College of Health & Life Sciences > Aston Medical School |
Funding Information: | The authors thank the NIHR Cambridge Biomedical Research Centre and VHL Alliance UK for funding research into VHL disease. The University of Cambridge has received salary support (ERM, RNS) from the NHS in the East of England through the Clinical Academic |
Additional Information: | Copyright © The Author(s) 2022. This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit https://creativecommons.org/licenses/by/4.0/. |
Publication ISSN: | 1532-1827 |
Last Modified: | 06 Aug 2024 09:58 |
Date Deposited: | 04 Jan 2024 17:10 |
Full Text Link: | |
Related URLs: |
https://www.nat ... 416-022-01724-7
(Publisher URL) |
PURE Output Type: | Article |
Published Date: | 2022-05-18 |
Published Online Date: | 2022-02-19 |
Accepted Date: | 2022-01-27 |
Authors: |
Maher, Eamonn R.
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 Lalloo, Fiona Miedzybrodzka, Zosia Ong, Kai Ren Pelz, Frauke Ruddy, Deborah Snape, Katie Whitworth, James Sandford, Richard N. |