Empirical development of improved diagnostic criteria for neurofibromatosis 2

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Empirical development of improved diagnostic criteria for neurofibromatosis 2

TitleEmpirical development of improved diagnostic criteria for neurofibromatosis 2
Publication TypeJournal Article
Year of Publication2011
AuthorsBaser, ME, Friedman, JM, Joe, H, Shenton, A, Wallace, AJ, Ramsden, RT, D. Evans, GR
JournalGenetics in Medicine
Date PublishedJUN
Type of Articlearticle
Keywordsdiagnosis, diagnostic criteria, genetic testing, neurofibromatosis 2, NF2
AbstractPurpose: Four sets of clinical diagnostic criteria have been proposed for neurofibromatosis 2, but all have low sensitivity at the time of initial clinical assessment for the disease among patients with a negative family history who do not present with bilateral vestibular schwannomas. We have empirically developed and tested an improved set of diagnostic criteria that uses current understanding of the natural history and genetic characteristics of neurofibromatosis 2 to increase sensitivity while maintaining very high specificity. Methods: We used data from the UK Neurofibromatosis 2 Registry and Kaplan-Meier curves to estimate frequencies of clinical features at various ages among patients with or without unequivocal neurofibromatosis 2. On the basis of this analysis, we developed the Baser criteria, a new diagnostic system that incorporates genetic testing and gives more weight to the most characteristic features and to those that occur before 30 years of age. Results: In an independent validation subset of patients with unequivocal neurofibromatosis 2, the Baser criteria increased diagnostic sensitivity to 79% (9-15% greater than previous sets of criteria) while maintaining 100% specificity at the age at onset of the first characteristic sign of neurofibromatosis 2. Conclusion: The Baser criteria permit early diagnosis in a greater proportion of patients with neurofibromatosis 2 than previous sets of diagnostic criteria. Genet Med 2011:13(6):576-581.