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 Ong; Frauke Pelz; Deborah Ruddy; Katie Snape; James Whitworth; Richard N. Sandford

doi:10.1038/s41416-022-01724-7

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 Ong

Frauke Pelz, Deborah Ruddy, Katie Snape, James Whitworth, Richard N. Sandford

Aston Medical School

Chapel Allerton Hospital
London North West University Healthcare NHS Trust Genetics Service
Newcastle upon Tyne Hospitals NHS Foundation Trust
Sheffield Children's Hospital NHS Foundation Trust
Princess Anne Hospital
Belfast City Hospital
Western General Hospital
Nottingham University Hospitals NHS Trust
Central Manchester University Hospitals NHS Foundation Trust
Department of Experimental Psychology, Anna Watts Building, University of Oxford, Oxford; Oxford University Hospitals NHS Foundation Trust, Oxford, UK; Department of Psychiatry, Warneford Hospital, Warneford Ln, Headington, Oxford
St George's University Hospitals NHS Foundation Trust
Great Ormond Street Hospital
University of Aberdeen
Department of Epidemiology, Erasmus Medical Center, Rotterdam, the Netherlands,Department of Ophthalmology, Erasmus Medical Center, Rotterdam, the Netherlands,Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, the Netherlands
Cardiff and Vale University Health Board
Guys and St Thomas' Hospital
University of Cambridge and Cambridge University Hospitals NHS Foundation Trust

Research output: Contribution to journal › Article › peer-review

10 Citations (Scopus)

9 Downloads (Pure)

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.

Original language	English
Pages (from-to)	1339-1345
Number of pages	7
Journal	British Journal of Cancer
Volume	126
Issue number	9
Early online date	19 Feb 2022
DOIs	https://doi.org/10.1038/s41416-022-01724-7
Publication status	Published - 18 May 2022

Bibliographical note

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/.

Funding

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 Reserve.

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

SDG 3 Good Health and Well-being

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10.1038/s41416-022-01724-7Licence: CC BY 4.0

ER Maher et al_Evaluation of tumour surveillance protocols and outcomes Von Hippel-Lindau disease
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/.
Final published version, 654 KBLicence: CC BY 4.0

Cite this

Maher, E. R., Adlard, J., Barwell, J., Brady, A. F., Brennan, P., Cook, J., Crawford, G. S., Dabir, T., Davidson, R., Dyer, R., Harrison, R., Forde, C., Halliday, D., Hanson, H., Hay, E., Higgs, J., Jones, M., Lalloo, F., Miedzybrodzka, Z., ... Sandford, R. 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), 1339-1345. https://doi.org/10.1038/s41416-022-01724-7

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

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.",

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

note = "Copyright {\textcopyright} 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{\textquoteright}s Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article{\textquoteright}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/.",

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Maher, ER, Adlard, J, Barwell, J, Brady, AF, Brennan, P, Cook, J, Crawford, GS, Dabir, T, Davidson, R, Dyer, R, Harrison, R, Forde, C, Halliday, D, Hanson, H, Hay, E, Higgs, J, Jones, M, Lalloo, F, Miedzybrodzka, Z, Ong, KR, Pelz, F, Ruddy, D, Snape, K, Whitworth, J & Sandford, RN 2022, 'Evaluation of tumour surveillance protocols and outcomes in von Hippel-Lindau disease in a national health service', British Journal of Cancer, vol. 126, no. 9, pp. 1339-1345. https://doi.org/10.1038/s41416-022-01724-7

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.

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DO - 10.1038/s41416-022-01724-7

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C2 - 35184155

SN - 0007-0920

VL - 126

SP - 1339

EP - 1345

JO - British Journal of Cancer

JF - British Journal of Cancer

IS - 9

ER -

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

Abstract

Bibliographical note

Funding

UN SDGs

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