TY - JOUR
T1 - Evaluation of tumour surveillance protocols and outcomes in von Hippel-Lindau disease in a national health service
AU - Maher, Eamonn R.
AU - Adlard, Julian
AU - Barwell, Julian
AU - Brady, Angela F.
AU - Brennan, Paul
AU - Cook, Jackie
AU - Crawford, Gillian S.
AU - Dabir, Tabib
AU - Davidson, Rosemarie
AU - Dyer, Rebecca
AU - Harrison, Rachel
AU - Forde, Claire
AU - Halliday, Dorothy
AU - Hanson, Helen
AU - Hay, Eleanor
AU - Higgs, Jenny
AU - Jones, Mari
AU - Lalloo, Fiona
AU - Miedzybrodzka, Zosia
AU - Ong, Kai Ren
AU - Pelz, Frauke
AU - Ruddy, Deborah
AU - Snape, Katie
AU - Whitworth, James
AU - Sandford, Richard N.
N1 - 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/.
PY - 2022/5/18
Y1 - 2022/5/18
N2 - 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.
AB - 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.
UR - https://www.nature.com/articles/s41416-022-01724-7
U2 - 10.1038/s41416-022-01724-7
DO - 10.1038/s41416-022-01724-7
M3 - Article
C2 - 35184155
SN - 0007-0920
VL - 126
SP - 1339
EP - 1345
JO - British Journal of Cancer
JF - British Journal of Cancer
IS - 9
ER -