Department of Neurology and Cancer Center, Massachusetts General Hospital, Boston, MA.
Department of Genetics, Heersink School of Medicine, University of Alabama at Birmingham, Birmingham, AL.
Genet Med. 2022 Sep;24(9):1967-1977. doi: 10.1016/j.gim.2022.05.007. Epub 2022 Jun 9.
Neurofibromatosis type 2 (NF2) and schwannomatosis (SWN) are genetically distinct tumor predisposition syndromes with overlapping phenotypes. We sought to update the diagnostic criteria for NF2 and SWN by incorporating recent advances in genetics, ophthalmology, neuropathology, and neuroimaging.
We used a multistep process, beginning with a Delphi method involving global disease experts and subsequently involving non-neurofibromatosis clinical experts, patients, and foundations/patient advocacy groups.
We reached consensus on the minimal clinical and genetic criteria for diagnosing NF2 and SWN. These criteria incorporate mosaic forms of these conditions. In addition, we recommend updated nomenclature for these disorders to emphasize their phenotypic overlap and to minimize misdiagnosis with neurofibromatosis type 1.
The updated criteria for NF2 and SWN incorporate clinical features and genetic testing, with a focus on using molecular data to differentiate the 2 conditions. It is likely that continued refinement of these new criteria will be necessary as investigators study the diagnostic properties of the revised criteria and identify new genes associated with SWN. In the revised nomenclature, the term "neurofibromatosis 2" has been retired to improve diagnostic specificity.
神经纤维瘤病 2 型（NF2）和许旺细胞瘤病（SWN）是具有重叠表型的遗传上不同的肿瘤易感性综合征。我们旨在通过纳入遗传学、眼科学、神经病理学和神经影像学的最新进展来更新 NF2 和 SWN 的诊断标准。
我们使用多步骤的方法，首先是一个涉及全球疾病专家的 Delphi 方法，然后是涉及非神经纤维瘤病临床专家、患者和基金会/患者宣传团体的方法。
我们就诊断 NF2 和 SWN 的最小临床和遗传标准达成了共识。这些标准纳入了这些疾病的镶嵌形式。此外，我们建议对这些疾病进行更新的命名法，以强调它们的表型重叠，并最大程度地减少与神经纤维瘤病 1 型的误诊。
NF2 和 SWN 的更新标准纳入了临床特征和基因检测，重点是使用分子数据来区分这两种情况。随着研究人员研究修订标准的诊断特性并确定与 SWN 相关的新基因，可能需要进一步完善这些新标准。在修订的命名法中，“神经纤维瘤病 2 型”一词已被弃用，以提高诊断特异性。
