ERN GENTURIS tumour surveillance guidelines for individuals with neurofibromatosis type 1
ERN GENTURIS · 2023 · Europe
Source and licence
- Authors
- Charlotte Carton, D. Gareth Evans, Ignacio Blanco et al.
- Title
- ERN GENTURIS tumour surveillance guidelines for individuals with neurofibromatosis type 1
- Journal
- eClinicalMedicine, 2023
- Licence
- CC BY 4.0
- Changes
- Verbatim excerpts; formatting adapted
Full text retrieved 2026-10-27 from Europe PMC · PMC9845795
Licence statement of the original publication
This is an open access article under the CC BY license (http://creativecommons.org/licenses/by/4.0/).
This page reproduces excerpts of the original publication; the original is authoritative. It has not been reviewed by a physician, does not state a recommendation of Medelix and does not replace medical advice. The guideline may have been updated since.
Open the original publication →Full text on Europe PMC
Recommendations
We found no explicitly labelled recommendations in this publication; its recommendations are in the running text of the original.
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 10.13039/501100000780European Union. DGE is supported by the Manchester 10.13039/100015250NIHR10.13039/100014461Biomedical Research Centre (IS-BRC-1215-20007).
Contents of the original publication
The section headings of the original.
- Introduction
- Methods
- Website
- Role of funding
- Results
- Guideline summary and general approach
- MRI as preferred imaging screening
- Optic pathway glioma and low-grade glioma
- Neurofibromas: cutaneous neurofibroma, plexiform neurofibroma, orbital and periorbital plexiform neurofibroma and atypical neurofibromatous neoplasm of uncertain biologic potential
- NF1 associated malignancies: malignant peripheral nerve sheath tumour, high-grade glioma, juvenile myelomonocytic leukaemia and breast cancer
- Other NF1 associated tumours: phaeochromocytoma and paraganglioma, glomus tumour of the digits and gastrointestinal stromal tumour
- Psychosocial needs
- Discussion
- Contributors
- Data sharing statement
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