A1 Refereed original research article in a scientific journal
Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation
Authors: Legius Eric, Messiaen Ludwine, Wolkenstein Pierre, Pancza Patrice, Avery Robert A, Berman Yemima, Blakeley Jaishri, Babovic-Vuksanovic Dusica, Cunha Karin Soares, Ferner Rosalie, Fisher Michael J, Friedman Jan M, Gutmann David H, Kehrer-Sawatzki Hildegard, Korf Bruce R, Mautner Victor-Felix, Peltonen Sirkku, Rauen Katherine A, Riccardi Vincent, Schorry Elizabeth, Stemmer-Rachamimov Anat, Stevenson David A, Tadini Gianluca, Ullrich Nicole J, Viskochil David, Wimmer Katharina, Yohay Kaleb, Huson Susan M, Evans D Gareth, Plotkin Scott R; International Consensus Group on Neurofibromatosis Diagnostic Criteria(I-NF-DC)
Publisher: SPRINGERNATURE
Publication year: 2021
Journal: Genetics in Medicine
Journal name in source: GENETICS IN MEDICINE
Journal acronym: GENET MED
Volume: 23
First page : 1505
Last page: 1513
Number of pages: 8
ISSN: 1098-3600
DOI: https://doi.org/10.1038/s41436-021-01170-5
Web address : https://www.nature.com/articles/s41436-021-01170-5
Self-archived copy’s web address: https://research.utu.fi/converis/portal/detail/Publication/59145093
Purpose
By incorporating major developments in genetics, ophthalmology, dermatology, and neuroimaging, to revise the diagnostic criteria for neurofibromatosis type 1 (NF1) and to establish diagnostic criteria for Legius syndrome (LGSS).
Methods
We used a multistep process, beginning with a Delphi method involving global experts and subsequently involving non-NF experts, patients, and foundations/patient advocacy groups.
Results
We reached consensus on the minimal clinical and genetic criteria for diagnosing and differentiating NF1 and LGSS, which have phenotypic overlap in young patients with pigmentary findings. Criteria for the mosaic forms of these conditions are also recommended.
Conclusion
The revised criteria for NF1 incorporate new clinical features and genetic testing, whereas the criteria for LGSS were created to differentiate the two conditions. It is likely that continued refinement of these new criteria will be necessary as investigators (1) study the diagnostic properties of the revised criteria, (2) reconsider criteria not included in this process, and (3) identify new clinical and other features of these conditions. For this reason, we propose an initiative to update periodically the diagnostic criteria for NF1 and LGSS.
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