- MVNT 被认识时间短、很少手术取材，诊断经验有限。作者回顾本院 4 例组织病理确诊病例，并按 PRISMA 系统检索 4 个数据库。
- 本院病例：2 例以癫痫发作就诊，MRI 均为 T2 高信号结节；组织学为空泡化间质中的空泡化神经元细胞，OLIG2 强阳性（3/3）、ATRX 保留（2/2）；1 例 NGS 检出致病性 MAP2K1 缺失（p.Q56_V60del）。
- 系统综述：49 项研究共 310 例；头痛 28.1%、癫痫 22.3%；病灶均 T2 高信号（289/289）。免疫组化报道不一，MAP2（12/13）和 OLIG2（19/29）常阳性；MAP2K1 改变（含致通路激活的微缺失）为最常见致癌突变。
- 影像学进展罕见（1/294，0.3%）。作者认为组织学支持良性胶质神经元起源，MAPK 通路反复改变提示共同发病机制。原文为 OUP 订阅内容，本站仅收摘要。
收录范围：出版社摘要（经 Crossref 获取）中英对照。原文为 Oxford University Press 订阅内容，出版社页面对本站抓取返回 403，采集时 PubMed 尚未收录（2026-11-06 已收录，PMID 42981465）；本站未获全文与图表。
摘要
多结节空泡状神经元肿瘤（MVNT）是一种认识尚不充分的中枢神经系统肿瘤，原因在于其被认识的时间不长且很少手术取样。本研究通过单中心病例系列和系统综述对 MVNT 进行特征描述。作者从本院回顾性检出 4 例经组织病理学证实的 MVNT，并按 PRISMA 指南在 PubMed、Embase、Scopus 和 Web of Science 中对影像学或病理学提示的 MVNT 进行了系统综述。本院有 2 例患者以癫痫发作就诊，MRI 示 T2 高信号结节（2/2，100.0%）。组织学显示空泡化间质内的空泡化神经元细胞，OLIG2 强阳性（3/3，100.0%），ATRX 表达保留（2/2，100.0%）。二代测序在 1 例中检出致病性 MAP2K1 缺失（p.Q56_V60del）。系统综述共纳入 49 项研究中的 310 例 MVNT。常见表现为头痛（87/310，28.1%）和癫痫发作（69/310，22.3%），病灶均为 T2 高信号（289/289，100.0%）。已报道的免疫组化结果不一，但 MAP2（12/13，92.3%）和 OLIG2（19/29，65.5%）常为阳性。MAP2K1 改变（包括与通路激活相关的微缺失）是最常见的致癌突变。影像学进展罕见（1/294，0.3%）。结论：MVNT 是影像学上具有特征性的病变，常在因头痛或癫痫发作就诊者中被发现。组织病理学支持其为良性胶质神经元起源，反复出现的 MAPK 通路改变提示存在共同的肿瘤发生机制。
- MVNT is incompletely understood owing to recent recognition and infrequent surgical sampling. The authors reviewed four histopathologically confirmed institutional cases and performed a PRISMA-guided search of four databases.
- Institutional cases: two presented with seizures and T2-hyperintense nodules on MRI; histology showed vacuolated neuronal cells in vacuolated stroma, strong OLIG2 (3/3) and retained ATRX (2/2); NGS found a pathogenic MAP2K1 deletion (p.Q56_V60del) in one case.
- Systematic review: 310 MVNTs in 49 studies; headaches 28.1%, seizures 22.3%; all lesions T2-hyperintense (289/289). IHC varied, but MAP2 (12/13) and OLIG2 (19/29) were often positive; MAP2K1 alterations, including microdeletions activating the pathway, were the most frequent oncogenic mutations.
- Radiologic progression was rare (1/294, 0.3%). Histology supports a benign glioneuronal origin; recurrent MAPK alterations suggest a shared mechanism. OUP subscription content — abstract only.
Scope: the publisher abstract (via Crossref). The article is Oxford University Press subscription content; the publisher page returned 403 to our fetch and PubMed had not yet indexed it at collection (now PMID 42981465). The full text and figures were not obtained.
Abstract
Multinodular and vacuolating neuronal tumor (MVNT) is an incompletely understood CNS neoplasm due to its recent recognition and infrequent surgical sampling. This study characterizes MVNT through an institutional case series and systematic review. Four histopathologically confirmed MVNTs were retrospectively identified from our institution, and a PRISMA-guided systematic review of PubMed, Embase, Scopus, and Web of Science for radiologically or pathologically indicated MVNTs was performed. Two institutional patients presented with seizures and T2-hyperintense nodules on MRI (2/2, 100.0%). Histology revealed vacuolated neuronal cells within vacuolated stroma, with strong OLIG2 (3/3, 100.0%) and retained ATRX (2/2, 100.0%) immunoreactivity. Next-generation sequencing identified a pathogenic MAP2K1 deletion (p.Q56_V60del) in one case. The systematic review identified 310 MVNTs across 49 studies. Frequent presentations included headaches (87/310, 28.1%) and seizures (69/310, 22.3%) in patients with T2-hyperintense lesions (289/289, 100.0%). Reported immunohistochemical findings varied, although MAP2 (12/13, 92.3%) and OLIG2 (19/29, 65.5%) were frequently positive. MAP2K1 alterations including microdeletions associated with pathway activation were the most frequent oncogenic mutations. Radiologic progression was rare (1/294, 0.3%). In conclusion, MVNTs are radiologically distinct lesions that are often discovered in individuals with headaches or seizures. Histopathology reinforces a benign glioneuronal origin, and recurrent MAPK pathway alterations suggest a shared mechanism of tumorigenesis.