Consensus recommendations for an integrated diagnostic approach to peripheral nerve sheath tumors arising in the setting of Neurofibromatosis type 1 (NF1).

IF 16.4 1区 医学 Q1 CLINICAL NEUROLOGY Neuro-oncology Pub Date : 2024-11-06 DOI:10.1093/neuonc/noae235
Calixto-Hope G Lucas, Andrea M Gross, Carlos G Romo, Carina A Dehner, Alexander J Lazar, Markku Miettinen, Melike Pekmezci, Martha Quezado, Fausto J Rodriguez, Anat Stemmer-Rachamimov, David Viskochil, Arie Perry
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Abstract

Consensus recommendation published in 2017 histologically defining atypical neurofibromatous neoplasm of uncertain biologic potential (ANNUBP) and malignant peripheral nerve sheath tumor (MPNST) were codified in the 2021 WHO Classification of Tumors of the Central Nervous System and the 2022 WHO Classification of Tumors of Soft Tissue and Bone. However, given the shift in diagnostic pathology toward the use of integrated histopathologic and genomic approaches, the incorporation of additional molecular strata in the classification of Neurofibromatosis Type 1 (NF1)-associated peripheral nerve sheath tumors should be formalized to aid in accurate diagnosis and early identification of malignant transformation to enable appropriate intervention for affected patients. To this end, we assembled a multi-institutional expert pathology working group as part of a "Symposium on Atypical Neurofibroma: State of the Science". Herein, we provide a suggested framework for adequate interventional radiology and surgical sampling, and recommend molecular profiling for clinically or radiologically worrisome non-cutaneous lesions in patients with NF1 to identify diagnostically-relevant molecular features, including CDKN2A/B inactivation for ANNUBP, as well as SUZ12, EED, or TP53 inactivating mutations, or significant aneuploidy for MPNST. We also propose renaming "low-grade MPNST" to "ANNUBP with increased proliferation" to avoid the use of the "malignant" term in this group of tumors with persistent unknown biologic potential. This refined integrated diagnostic approach for NF1-associated peripheral nerve sheath tumors should continue to evolve in concert with our understanding of these neoplasms.

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关于 1 型神经纤维瘤病 (NF1) 周围神经鞘瘤综合诊断方法的共识建议。
2017年发表的共识建议将组织学定义为生物潜能不确定的非典型神经纤维瘤肿瘤(ANNUBP)和恶性周围神经鞘瘤(MPNST)编入了《2021年世界卫生组织中枢神经系统肿瘤分类》和《2022年世界卫生组织软组织和骨肿瘤分类》。然而,鉴于病理诊断已转向综合使用组织病理学和基因组学方法,因此应正式将更多的分子层纳入神经纤维瘤病 1 型(NF1)相关周围神经鞘瘤的分类中,以帮助准确诊断和早期识别恶性转化,从而对受影响的患者进行适当干预。为此,我们组建了一个多机构病理学专家工作组,作为 "非典型神经纤维瘤:科学现状研讨会 "的一部分。在此,我们为充分的介入放射学和手术取样提供了一个建议框架,并建议对 NF1 患者中临床或放射学上令人担忧的非皮肤病变进行分子图谱分析,以确定与诊断相关的分子特征,包括 ANNUBP 的 CDKN2A/B 失活,以及 SUZ12、EED 或 TP53 失活突变,或 MPNST 的显著非整倍体。我们还建议将 "低级别 MPNST "更名为 "增殖增加的 ANNUBP",以避免在这组生物潜能持续不明的肿瘤中使用 "恶性 "一词。这种针对 NF1 相关周围神经鞘瘤的精细化综合诊断方法应随着我们对这些肿瘤的了解而不断发展。
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来源期刊
Neuro-oncology
Neuro-oncology 医学-临床神经学
CiteScore
27.20
自引率
6.30%
发文量
1434
审稿时长
3-8 weeks
期刊介绍: Neuro-Oncology, the official journal of the Society for Neuro-Oncology, has been published monthly since January 2010. Affiliated with the Japan Society for Neuro-Oncology and the European Association of Neuro-Oncology, it is a global leader in the field. The journal is committed to swiftly disseminating high-quality information across all areas of neuro-oncology. It features peer-reviewed articles, reviews, symposia on various topics, abstracts from annual meetings, and updates from neuro-oncology societies worldwide.
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