Pathology Unit, Department of Medical Sciences, University of Turin, Turin, Italy.
Laboratory of Genetics, Sant'Anna General Hospital, Como, Italy.
Pathologica. 2022 Dec;114(6):436-446. doi: 10.32074/1591-951X-817.
Ependymal neoplasms are a heterogenous group of neoplasms arising from the progenitors of the cells lining the ventricular system and the spinal central canal. During the last few years, significant novel data concerning oncogenesis, molecular characteristics and clinical correlations of these tumours have been collected, with a strong relevance for their pathological classification. The recently published 5th edition of WHO Classification of Central Nervous System Tumours integrates this novel knowledge and represents a substantial update compared to the previous edition. Concerning supratentorial ependymomas, the previous fusion-positive ependymoma has been renamed into fusion-positive and the novel fusion-positive ependymoma subtype has been added. Posterior fossa ependymomas should now be allocated either to the Type A or Type B subtypes based on molecular profiling or using the H3 K27me3 immunohistochemical surrogate. Regarding spinal ependymomas, a novel subtype has been added based on a distinctive molecular trait, presence of amplification, and on the unfavourable outcome. Finally, myxopapillary ependymoma is now classified as a grade 2 tumour in accordance with its overall prognosis which mirrors that of conventional spinal ependymomas. The aim of this review is to present these changes and summarize the current diagnostic framework of ependymal tumours, according to the most recent updates.
室管膜肿瘤是一组起源于脑室系统和脊髓中央管细胞的异质性肿瘤。在过去的几年中，已经收集了大量关于这些肿瘤的发生机制、分子特征和临床相关性的新数据，这些数据对其病理分类具有很强的相关性。最近出版的第 5 版《世界卫生组织中枢神经系统肿瘤分类》整合了这些新知识，与前一版相比有了实质性的更新。关于幕上室管膜瘤，以前的 融合阳性室管膜瘤已更名为 融合阳性，并且添加了新的 融合阳性室管膜瘤亚型。根据分子谱或使用 H3 K27me3 免疫组织化学替代物，现在应将后颅窝室管膜瘤分配到 A 型或 B 型亚型。关于脊髓室管膜瘤，根据独特的分子特征、存在 扩增和不良预后，添加了一种新的亚型。最后，根据其总体预后与传统的脊髓室管膜瘤相似，黏液性乳头型室管膜瘤现在被归类为 2 级肿瘤。本文的目的是根据最新的更新，介绍这些变化并总结室管膜肿瘤的当前诊断框架。
