皮肤神经纤维瘤：当前的临床和病理问题。
Cutaneous neurofibromas: Current clinical and pathologic issues.
机构信息
From the Departments of Pathology (N.O.) and Dermatology (P.W.), French Referral Center for Neurofibromatoses, Henri-Mondor Hospital, AP-HP, University Paris Est Créteil, France; Department of Neurology (J.O.B., S.K.V.), Johns Hopkins University School of Medicine, The Neurofibromatosis Therapuetic Acceleration Program, Baltimore, MD; University of Alabama at Birmingham (B.K.); Cancer Center and Department of Neurology (S.R.P.) and Department of Pathology, Division of Neuropathology (A.S.-R.), Massachusetts General Hospital, Boston; The Neurofibromatosis Institute (V.M.R.), La Crescenta, CA; Department of Pathology & Anatomical Sciences (D.C.M.), University of Missouri School of Medicine, Columbia; Manchester Centre for Genomic Medicine (S.H.), Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Science Centre, UK; Institute of Biomedicine (J.P.), University of Turku, Finland; Department of Pathology and Laboratory Medicine (A.R.), Jackson Memorial Hospital/University of Miami Miller School of Medicine, FL; Department of Pathology and Laboratory Medicine (S.L.C.), Medical University of South Carolina, Charleston; Clinics and Polyclinics of Neurology (V.M.), University Hospital Hamburg-Eppendorf, Hamburg, Germany; and Division of Cancer and Genetics (M.U.), Institute of Medical Genetics, Cardiff University, UK.
出版信息
Neurology. 2018 Jul 10;91(2 Suppl 1):S5-S13. doi: 10.1212/WNL.0000000000005792.
OBJECTIVE
To present the current terminology and natural history of neurofibromatosis 1 (NF1) cutaneous neurofibromas (cNF).
METHODS
NF1 experts from various research and clinical backgrounds reviewed the terms currently in use for cNF as well as the clinical, histologic, and radiographic features of these tumors using published and unpublished data.
RESULTS
Neurofibromas develop within nerves, soft tissue, and skin. The primary distinction between cNF and other neurofibromas is that cNF are limited to the skin whereas other neurofibromas may involve the skin, but are not limited to the skin. There are important cellular, molecular, histologic, and clinical features of cNF. Each of these factors is discussed in consideration of a clinicopathologic framework for cNF.
CONCLUSION
The development of effective therapies for cNF requires formulation of diagnostic criteria that encompass the clinical and histologic features of these tumors. However, there are several areas of overlap between cNF and other neurofibromas that make distinctions between cutaneous and other neurofibromas more difficult, requiring careful deliberation with input across the multiple disciplines that encounter these tumors and ultimately, prospective validation. The ultimate goal of this work is to facilitate accurate diagnosis and meaningful therapeutics for cNF.
目的
介绍神经纤维瘤病 1 型 (NF1) 皮肤神经纤维瘤 (cNF) 的当前术语和自然史。
方法
来自不同研究和临床背景的 NF1 专家使用已发表和未发表的数据，回顾了当前用于 cNF 的术语以及这些肿瘤的临床、组织学和影像学特征。
结果
神经纤维瘤在神经、软组织和皮肤内发育。cNF 与其他神经纤维瘤的主要区别在于 cNF 仅限于皮肤，而其他神经纤维瘤可能累及皮肤，但不限于皮肤。cNF 具有重要的细胞、分子、组织学和临床特征。在考虑 cNF 的临床病理框架时，讨论了这些因素中的每一个。
结论
制定包含这些肿瘤临床和组织学特征的 cNF 诊断标准，对于开发有效的 cNF 治疗方法至关重要。然而，cNF 和其他神经纤维瘤之间存在几个重叠区域，使得区分皮肤和其他神经纤维瘤更加困难，需要在遇到这些肿瘤的多个学科之间进行仔细审议，并最终进行前瞻性验证。这项工作的最终目标是促进 cNF 的准确诊断和有意义的治疗。
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