Department of Medical Genetics, University of British Columbia and the Child & Family Research Institute, Vancouver, British Columbia, Canada.
Genet Med. 2011 Jun;13(6):576-81. doi: 10.1097/GIM.0b013e318211faa9.
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.
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.
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.
The Baser criteria permit early diagnosis in a greater proportion of patients with neurofibromatosis 2 than previous sets of diagnostic criteria.
已经提出了四套用于 2 型神经纤维瘤病的临床诊断标准，但在没有家族史且不表现为双侧听神经瘤的患者中，在疾病初始临床评估时，所有标准的敏感性都较低。我们已经通过经验开发和测试了一套改进的诊断标准，该标准利用了对 2 型神经纤维瘤病自然史和遗传特征的当前理解，在保持非常高特异性的同时提高了敏感性。
我们使用了来自英国 2 型神经纤维瘤病登记处的数据和 Kaplan-Meier 曲线，以估计有或没有明确 2 型神经纤维瘤病的患者在不同年龄的临床特征的频率。基于此分析，我们开发了 Baser 标准，这是一种新的诊断系统，它纳入了基因检测，并更加重视最具特征性的特征和 30 岁之前出现的特征。
在具有明确 2 型神经纤维瘤病的患者的独立验证子集中，Baser 标准将诊断敏感性提高到 79%（比以前的标准高 9-15%），同时在 2 型神经纤维瘤病的第一个特征性体征出现时保持 100%的特异性。
与以前的诊断标准相比，Baser 标准可以使更多的 2 型神经纤维瘤病患者实现早期诊断。
