少突胶质细胞瘤的定义是 IDH1/2 突变和染色体臂 1p/19q 的共缺失。尽管之前的研究发现 CIC、FUBP1 和 TERTp 在少突胶质细胞瘤中经常发生改变，但这些分子特征的临床相关性尚不清楚。此外，以前的研究主要使用提供者和患者不易获得的研究小组。因此，我们使用临床标准化的下一代测序 (NGS) 组合探索分子定义的少突胶质细胞瘤的基因组改变。一项回顾性单中心研究评估了 2005 年至 2021 年间诊断出的经病理证实的 IDH 突变、1p/19q 编码缺失的少突胶质细胞瘤成人。约翰霍普金斯大学医学实验室的 NGS 实体瘤小组对福尔马林固定、石蜡包埋的标本的数据进行了分析，该小组测试了 400 多个癌症相关基因。 Kaplan-Meier 图和对数秩检验按变异状态比较了无进展生存期 (PFS) 和总生存期。使用 χ2 检验、t 检验和 Wilcoxon 秩和检验来比较 10 个最常改变的基因的基因组变异状态之间的临床特征。 确定了 277 名分子定义少突胶质细胞瘤患者，其中 95 名患者患有可用的 NGS 报告。 10 个基因中有 9 名或更多患者发生基因组改变，其中 CIC、FUBP1 和 TERTp 是最常发生改变的基因（分别为 n = 60、23 和 22）。 Kaplan-Meier 曲线显示大多数基因与 PFS 或总生存率的差异无关。在早期时间点（PFS <100 个月），CIC 改变导致患者 PFS 降低 (P = .038)。我们的研究证实了分子定义的少突胶质细胞瘤中 CIC、FUBP1 和 TERTp 改变的频率升高，并表明存在潜在关系CIC 在较早时间点对 PFS 的更改。随着 NGS 成为常规，了解这些基因组变异可能会为预后或治疗建议提供信息。版权所有 © 神经外科医生大会 2024。保留所有权利。

Oligodendrogliomas are defined by IDH1/2 mutation and codeletion of chromosome arms 1p/19q. Although previous studies identified CIC, FUBP1, and TERTp as frequently altered in oligodendrogliomas, the clinical relevance of these molecular signatures is unclear. Moreover, previous studies predominantly used research panels that are not readily available to providers and patients. Accordingly, we explore genomic alterations in molecularly defined oligodendrogliomas using clinically standardized next-generation sequencing (NGS) panels.A retrospective single-center study evaluated adults with pathologically confirmed IDH-mutant, 1p/19q-codeleted oligodendrogliomas diagnosed between 2005 and 2021. Genetic data from formalin-fixed, paraffin-embedded specimens were analyzed with the NGS Solid Tumor Panel at the Johns Hopkins Medical Laboratories, which tests more than 400 cancer-related genes. Kaplan-Meier plots and log-rank tests compared progression-free survival (PFS) and overall survival by variant status. χ2 tests, t-tests, and Wilcoxon rank-sum tests were used to compare clinical characteristics between genomic variant status in the 10 most frequently altered genes.Two hundred and seventy-seven patients with molecularly defined oligodendrogliomas were identified, of which 95 patients had available NGS reports. Ten genes had 9 or more patients with a genomic alteration, with CIC, FUBP1, and TERTp being the most frequently altered genes (n = 60, 23, and 22, respectively). Kaplan-Meier curves showed that most genes were not associated with differences in PFS or overall survival. At earlier time points (PFS <100 months), CIC alterations conferred a reduction in PFS in patients (P = .038).Our study confirms the elevated frequency of CIC, FUBP1, and TERTp alterations in molecularly defined oligodendrogliomas and suggests a potential relationship of CIC alteration to PFS at earlier time points. Understanding these genomic variants may inform prognosis or therapeutic recommendations as NGS becomes routine.Copyright © Congress of Neurological Surgeons 2024. All rights reserved.