Global Network of Neurofibromatosis Patient Organisations


Revised diagnostic criteria for NF1 and Legius syndrome

Revised diagnostic criteria for neurofibromatosis type 1, Legius syndrome, and mosaic NF have been released. This is the first update of the diagnostic criteria for neurofibromatosis since 1987.

On 19 May 2021, revised diagnostic criteria for neurofibromatosis type 1, Legius syndrome, and mosaic NF were released. This is the first revision of these criteria since they were first announced in 1987 at the National Institutes of Health (NIH) Consensus Development Conference on Neurofibromatosis, The idea of such revision is to incorporate major developments in genetics, ophthalmology, dermatology, and neuroimaging for the last decades.

The revision process was based on involving a large group of global experts and also engaging non-NF experts, patients, and patient advocacy groups. This project, which took many years to complete, was carried out with the financial support of the Children’s Tumor Foundation (USA).

According to the investigators, their work aimed at studying the diagnostic properties of the revised criteria, reconsidering criteria not included in this process, and identifying new clinical and other features of the respective conditions.

Prof. Gareth Evans explains the new criteria for NF patients

Prof. Gareth Evans from the University of Manchester / Manchester Hospital Foundation Trust explains the Updated diagnostic criteria of Neurofibromatosis Type 1 and Legius Syndrome to NF patients.
Watch the interview here:

The role of patients as experts

During the last years, NF Patients United has been organizing a round of talks and online meetings with the leading experts of the investigators’ group so that patients and patient representatives could also ask questions and express their concerns, and we are very grateful for having had this invaluable opportunity to involve the European patient community in this important update of the diagnostic criteria.

NF Patients United and its members congratulate everyone involved in completing this huge and important work on updating the existing criteria. The full article with the revised criteria is published in Genetics in Medicine (2021).

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