Review

. 2023 Jan 13:56:101818.

doi: 10.1016/j.eclinm.2022.101818. eCollection 2023 Feb.

ERN GENTURIS tumour surveillance guidelines for individuals with neurofibromatosis type 1

Charlotte Carton¹, D Gareth Evans², Ignacio Blanco³, Reinhard E Friedrich⁴, Rosalie E Ferner⁵, Said Farschtschi⁴, Hector Salvador⁶, Amedeo A Azizi⁷, Victor Mautner⁴, Claas Röhl⁸, Sirkku Peltonen^{9

10}, Stavros Stivaros^{11

12}, Eric Legius¹³, Rianne Oostenbrink¹⁴; ERN GENTURIS NF1 Tumour Management Guideline Group

Collaborators, Affiliations

Collaborators

ERN GENTURIS NF1 Tumour Management Guideline Group:
Joan Brunet, Frank Van Calenbergh, Catherine Cassiman, Thomas Czech, María José Gavarrete de León, Henk Giele, Susie Henley, Conxi Lazaro, Vera Lipkovskaya, Eamonn R Maher, Vanessa Martin, Irene Mathijssen, Enrico Opocher, Ana Elisabete Pires, Thomas Pletschko, Eirene Poupaki, Vita Ridola, Andre Rietman, Thorsten Rosenbaum, Alastair Santhouse, Astrid Sehested, Ian Simmons, Walter Taal, Anja Wagner

Affiliations

¹ Laboratory for Neurofibromatosis Research, Department of Human Genetics, University of Leuven, KU Leuven, Belgium.
² Manchester Centre for Genomic Medicine, Division of Evolution and Genomic Sciences, University of Manchester, MAHSC, St Mary's Hospital, Manchester University Hospitals NHS Foundation Trust, Manchester, UK.
³ Clinical Genetics Department, Hospital Germans Trias I Pujol, Barcelona, Spain.
⁴ Universitätsklinikum Hamburg-Eppendorf, Hamburg, Germany.
⁵ Neurofibromatosis Centre, Department of Neurology, Guy's & St Thomas' NHS Foundation Trust, London, UK.
⁶ Sant Joan de Déu, Barcelona Children's Hospital, Barcelona, Spain.
⁷ Division of Neonatology, Pediatric Intensive Care and Neuropediatrics, Department of Pediatrics and Adolescent Medicine, Medical University of Vienna, Austria.
⁸ NF Kinder, Austria.
⁹ University of Turku and Turku University Hospital, Turku, Finland.
¹⁰ Sahlgrenska University Hospital and Sahlgrenska Academy, University of Gothenburg, Sweden.
¹¹ Academic Unit of Paediatric Radiology, Royal Manchester Children's Hospital, Central Manchester University Hospitals NHS Foundation Trust, Manchester, UK.
¹² Geoffrey Jefferson Brain Research Centre, Northern Care Alliance NHS Group, University of Manchester, Manchester Academic Health Science Centre, Manchester, UK.
¹³ University Hospital Leuven, Department of Human Genetics, University of Leuven, KU Leuven, Belgium.
¹⁴ ENCORE-NF1 Expertise Center, ErasmusMC-Sophia, Rotterdam, the Netherlands.

PMID: 36684394
PMCID: PMC9845795
DOI: 10.1016/j.eclinm.2022.101818

Review

ERN GENTURIS tumour surveillance guidelines for individuals with neurofibromatosis type 1

Charlotte Carton et al. EClinicalMedicine. 2023.

. 2023 Jan 13:56:101818.

doi: 10.1016/j.eclinm.2022.101818. eCollection 2023 Feb.

Authors

Collaborators

ERN GENTURIS NF1 Tumour Management Guideline Group:
Joan Brunet, Frank Van Calenbergh, Catherine Cassiman, Thomas Czech, María José Gavarrete de León, Henk Giele, Susie Henley, Conxi Lazaro, Vera Lipkovskaya, Eamonn R Maher, Vanessa Martin, Irene Mathijssen, Enrico Opocher, Ana Elisabete Pires, Thomas Pletschko, Eirene Poupaki, Vita Ridola, Andre Rietman, Thorsten Rosenbaum, Alastair Santhouse, Astrid Sehested, Ian Simmons, Walter Taal, Anja Wagner

Affiliations

¹ Laboratory for Neurofibromatosis Research, Department of Human Genetics, University of Leuven, KU Leuven, Belgium.
² Manchester Centre for Genomic Medicine, Division of Evolution and Genomic Sciences, University of Manchester, MAHSC, St Mary's Hospital, Manchester University Hospitals NHS Foundation Trust, Manchester, UK.
³ Clinical Genetics Department, Hospital Germans Trias I Pujol, Barcelona, Spain.
⁴ Universitätsklinikum Hamburg-Eppendorf, Hamburg, Germany.
⁵ Neurofibromatosis Centre, Department of Neurology, Guy's & St Thomas' NHS Foundation Trust, London, UK.
⁶ Sant Joan de Déu, Barcelona Children's Hospital, Barcelona, Spain.
⁷ Division of Neonatology, Pediatric Intensive Care and Neuropediatrics, Department of Pediatrics and Adolescent Medicine, Medical University of Vienna, Austria.
⁸ NF Kinder, Austria.
⁹ University of Turku and Turku University Hospital, Turku, Finland.
¹⁰ Sahlgrenska University Hospital and Sahlgrenska Academy, University of Gothenburg, Sweden.
¹¹ Academic Unit of Paediatric Radiology, Royal Manchester Children's Hospital, Central Manchester University Hospitals NHS Foundation Trust, Manchester, UK.
¹² Geoffrey Jefferson Brain Research Centre, Northern Care Alliance NHS Group, University of Manchester, Manchester Academic Health Science Centre, Manchester, UK.
¹³ University Hospital Leuven, Department of Human Genetics, University of Leuven, KU Leuven, Belgium.
¹⁴ ENCORE-NF1 Expertise Center, ErasmusMC-Sophia, Rotterdam, the Netherlands.

PMID: 36684394
PMCID: PMC9845795
DOI: 10.1016/j.eclinm.2022.101818

Abstract

Background: Neurofibromatosis type 1 (NF1) is a multisystem genetic disorder, predisposing development of benign and malignant tumours. Given the oncogenic potential, long-term surveillance is important in patients with NF1. Proposals for NF1 care and its specific manifestations have been developed, but lack integration within routine care. This guideline aims to assimilate available information on NF1 associated tumours (based on evidence and/or expert opinion) to assist healthcare professionals in undertaking tumour surveillance of NF1 individuals.

Methods: By comprehensive literature review, performed March 18th 2020, guidelines were developed by a NF1 expert group and patient representatives, conversant with clinical care of the wide NF1 disease spectrum. We used a modified Delphi procedure to overcome issues of variability in recommendations for specific (national) health care settings, and to deal with recommendations based on indirect (scarce) evidence.

Findings: We defined proposals for personalised and targeted tumour management in NF1, ensuring appropriate care for those in need, whilst reducing unnecessary intervention. We also incorporated the tumour-related psychosocial and quality of life impact of NF1.

Interpretation: The guideline reflects the current care for NF1 in Europe. They are not meant to be prescriptive and may be adjusted to local available resources at the treating centre, both within and outside EU countries.

Funding: This guideline has been supported by the European Reference Network on Genetic Tumour Risk Syndromes (ERN GENTURIS). ERN GENTURIS is funded by the European Union. DGE is supported by the Manchester NIHRBiomedical Research Centre (IS-BRC-1215-20007).

Keywords: Guideline; Management; Neurofibromatosis type 1; Tumour predisposing syndrome.

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Conflict of interest statement

All members of the ERN GENTURIS NF1 Tumour Management Guideline Group, including the Core Working Group, have provided disclosure statements on all relationships that they have that might be perceived to be a potential source of a conflict of interest. Dr. Azizi reports personal fees from 10.13039/100004325AstraZeneca, personal fees from Hofmann, LaRoche, outside the submitted work. Dr. Blanco reports personal fees from AstraZeneca, outside the submitted work. C. Carton reports grants from EU-PEARL, the innovative Medicines Inititaive 2 Joint Undertaking under grant agreement no 853966, outside the submitted work. Dr. Evans reports personal fees from AstraZeneca, personal fees from Springworks Therapeutics, outside the submitted work. Dr. Farschtschi has nothing to disclose. Dr. Ferner reports grants and personal fees from AstraZeneca, outside the submitted work. Dr. Friedrich has nothing to disclose. Dr. Legius reports personal fees from AstraZeneca, personal fees from Springworks Therapeutics, grants from EU-PEARL, the innovative Medicines Inititaive 2 Joint Undertaking under grant agreement no 853966, outside the submitted work. Dr. Mautner has nothing to disclose. Dr. Oostenbrink reports personal fees from 10.13039/100004325AstraZeneca, personal fees from 10.13039/100004325AstraZeneca, grants from EU-PEARL, the innovative Medicines Inititaive 2 Joint Undertaking under grant agreement no 853966, outside the submitted work. Dr. Peltonen has nothing to disclose. C. Röhl reports grants and personal fees from 10.13039/100004336Novartis, grants from 10.13039/100004325AstraZeneca, grants from 10.13039/100004337Roche, grants and personal fees from 10.13039/100004319Pfizer, personal fees from Boehringer, personal fees from ingelheim, outside the submitted work. Dr. Salvador Hernandez reports personal fees from 10.13039/100004325AstraZeneca, outside the submitted work. Dr. Stivaros has nothing to disclose. Dr. Brunet reports personal fees from 10.13039/100004325AstraZeneca, outside the submitted work. Dr. Cassiman has nothing to disclose. Dr. Czech has nothing to disclose. M. J. Gavarrete de León has nothing to disclose. Dr. Giele has nothing to disclose. Dr. Henley has nothing to disclose. Dr. Lazaro reports personal fees from 10.13039/100004325AstraZeneca, outside the submitted work. V. Lipkovskaya has nothing to disclose. Dr. Maher reports other from Illumina and MSD, outside the submitted work. V. Martin has nothing to disclose. Dr. Mathijssen has nothing to disclose. Dr. Opocher reports personal fees from 10.13039/100004325AstraZeneca, outside the submitted work. A. E. Pires has nothing to disclose. Dr. Pletschko has nothing to disclose. Dr. Ridola has nothing to disclose. Dr. Rietman has nothing to disclose. Dr. Rosenbaum reports personal fees from 10.13039/100004325AstraZeneca, other from Lonza AG, outside the submitted work. Dr. Santhouse has nothing to disclose. Dr. Sehested has nothing to disclose. I. Simmons has nothing to disclose. Dr. Taal reports grants from 10.13039/100004336Novartis, outside the submitted work. Dr. Van Calenbergh has nothing to disclose. Dr. Wagner has nothing to disclose.

Figures

**Fig. 1**
Flowchart of the search results, formulation and grading of the recommendations and Delphi procedure.

See this image and copyright information in PMC

References

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1. Brems H., Beert E., de Ravel T., Legius E. Mechanisms in the pathogenesis of malignant tumours in neurofibromatosis type 1. Lancet Oncol. 2009;10(5):508–515. - PubMed
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ERN GENTURIS tumour surveillance guidelines for individuals with neurofibromatosis type 1

Collaborators

Affiliations

ERN GENTURIS tumour surveillance guidelines for individuals with neurofibromatosis type 1

Authors

Collaborators

Affiliations

Abstract

Conflict of interest statement

Figures

References

Publication types

LinkOut - more resources

Full Text Sources

Research Materials

Miscellaneous