Abstract：
OBJECTIVE: 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.
METHODS: 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.
RESULTS: 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.
CONCLUSIONS: 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.
METHODS: 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.
RESULTS: 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.
CONCLUSIONS: 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.
摘要：
目的：2型神经纤维瘤病（NF2）和神经鞘瘤病（SWN）是遗传上不同的肿瘤易感性综合征，表型重叠。我们试图通过纳入遗传学的最新进展来更新NF2和SWN的诊断标准，眼科,神经病理学，和神经成像。
方法：我们使用了多步骤过程，从德尔菲法开始，涉及全球疾病专家，随后涉及非神经纤维瘤病临床专家，病人,和基金会/患者倡导团体。
结果：我们就诊断NF2和SWN的最低临床和遗传标准达成共识。这些标准结合了这些条件的马赛克形式。此外,我们建议更新这些疾病的命名法,以强调它们的表型重叠,并尽量减少1型神经纤维瘤病的误诊.
结论：NF2和SWN的更新标准包括临床特征和基因检测，重点是使用分子数据来区分这两种条件。随着研究人员研究修订标准的诊断特性并鉴定与SWN相关的新基因，这些新标准的持续完善可能是必要的。在修订后的命名法中，“神经纤维瘤病2”一词已停用,以提高诊断特异性.
方法：我们使用了多步骤过程，从德尔菲法开始，涉及全球疾病专家，随后涉及非神经纤维瘤病临床专家，病人,和基金会/患者倡导团体。
结果：我们就诊断NF2和SWN的最低临床和遗传标准达成共识。这些标准结合了这些条件的马赛克形式。此外,我们建议更新这些疾病的命名法,以强调它们的表型重叠,并尽量减少1型神经纤维瘤病的误诊.
结论：NF2和SWN的更新标准包括临床特征和基因检测，重点是使用分子数据来区分这两种条件。随着研究人员研究修订标准的诊断特性并鉴定与SWN相关的新基因，这些新标准的持续完善可能是必要的。在修订后的命名法中，“神经纤维瘤病2”一词已停用,以提高诊断特异性.
