Updated diagnostic criteria and nomenclature for neurofibromatosis type 2 and schwannomatosis: An international consensus recommendation
Updated diagnostic criteria and nomenclature for neurofibromatosis type 2 and schwannomatosis: An international consensus recommendation
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DOI：
10.1016/j.gim.2022.05.007
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发表时间：
2022-09-02
影响因子：
8.8
通讯作者：
Evans, D. Gareth
中科院分区：
文献类型：
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作者：
Plotkin, Scott R.;Messiaen, Ludwine;Evans, D. Gareth
目的：神经纤维瘤病2型（NF 2）和神经鞘瘤病（SWN）是两种遗传学上不同的肿瘤易感综合征，但具有重叠的表型。我们试图通过整合遗传学、眼科学、神经病理学和神经影像学的最新进展来更新NF 2和SWN的诊断标准。方法：我们使用了多步骤的过程，从涉及全球疾病专家的德尔菲方法开始，随后涉及非神经纤维瘤病临床专家、患者和基金会/患者倡导团体。结果：我们就诊断NF 2和SWN的最低临床和遗传标准达成了共识。这些标准包括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，以强调其表型重叠，并尽量减少与神经纤维瘤病1型的误诊。结论：NF 2和SWN的更新标准结合了临床特征和基因检测，重点是使用分子数据来区分2种疾病。随着研究人员研究修订标准的诊断特性和鉴定与SWN相关的新基因，继续完善这些新标准可能是必要的。在修订后的命名法中，术语“神经纤维瘤病2”已退休，以提高诊断特异性。(C)2022作者爱思唯尔公司出版代表美国医学遗传学和基因组学学院。
Purpose: 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.Conclusion: 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. (C) 2022 The Authors. Published by Elsevier Inc. on behalf of American College of Medical Genetics and Genomics.