NF1患者中脑神经系统恶性肿瘤患病率较高。然而，有关成年NF1相关胶质母细胞瘤的临床过程或病理特征方面的了解甚少，这限制了临床护理和研究。 John Hopkins医院，Memorial Sloan Kettering癌症中心和Washington大学的18岁及以上的NF1患者，并在1990-2020年之间攸关的三处进行非视路径胶质母细胞瘤（非OPG）的组织学确诊。回顾性数据被整理，并进行中央病理学检查。符合资格标准的45名患者，其中23名女性（51％），年龄中位数为37岁（18-68岁），表现状态为80％（30-100％）。35名患者可获得组织标本。诊断包括浸润性（低级别）星形胶质瘤（9例），胶质母细胞瘤（7例），带毛细胞特征的高级别星形胶质瘤（4例），毛细胞瘤（4例），高级别星形胶质瘤（3例），WHO诊断未达成（4例）及分别患有胶质肉瘤，神经节胶质瘤，胚胎性肿瘤和弥漫性中线胶质瘤的病例。其中71％的肿瘤是中线肿瘤，仅经历了活组织检查。所有评估的27种肿瘤均为IDH1野生型，独立于组织学。在进行分子检测的10个病例中，最常见的遗传变异是NF1、EGFR、ATRX、CDKN2A / B、TP53、TERT和MSH2 / 3突变。虽然所提供的治疗方法有所不同，但所有年龄段患者的中位总生存期为24个月[2-267个月]，而I-2级胶质母细胞瘤患者的中位总生存期为38.5 [18-109]个月。NF1成年人的非OPG，包括低级别肿瘤，通常具有侵袭性临床过程，表明有需要更好地了解这些NF1相关胶质母细胞瘤的病理生物学。 © 作者 2023。由牛津大学出版社代表神经肿瘤学会出版。保留所有权利。有关许可，请发送电子邮件至journals.permissions@oup.com。

People with NF1 have an increased prevalence of CNS malignancy. However, little is known about the clinical course or pathologic features of NF1-associated gliomas in adults, limiting clinical care and research.Adults (≥18 years) with NF1 and histologically confirmed non-optic pathway gliomas (non-OPGs) at Johns Hopkins Hospital, Memorial Sloan Kettering Cancer Center, and Washington University presenting between 1990-2020 were identified. Retrospective data were collated, and pathology reviewed centrally.Forty-five patients, comprising 23 females (51%), met eligibility criteria, with a median of age 37 (18-68 years) and performance status of 80% (30-100%). Tissue was available for 35 patients. Diagnoses included infiltrating (low-grade) astrocytoma (9), glioblastoma (7), high-grade astrocytoma with piloid features (4), pilocytic astrocytoma (4), high-grade astrocytoma (3), WHO diagnosis not reached (4) and one each of gliosarcoma, ganglioglioma, embryonal tumor, and diffuse midline glioma. Seventy-one percent of tumors were midline and underwent biopsy only. All 27 tumors evaluated were IDH1-wild-type, independent of histology. In the 10 cases with molecular testing, the most common genetic variants were NF1, EGFR, ATRX, CDKN2A/B, TP53, TERT, and MSH2/3 mutation. While the treatments provided varied, the median overall survival was 24 months [2-267 months] across all ages, and 38.5 [18-109] months in individuals with grade 1-2 gliomas.Non-OPGs in adults with NF1, including low-grade tumors, often have an aggressive clinical course, indicating a need to better understand the pathobiology of these NF1-associated gliomas.© The Author(s) 2023. Published by Oxford University Press on behalf of the Society for Neuro-Oncology. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.