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脑膜瘤分级:超越组织病理学——表观遗传学和基因特征对预测临床结果的相关性

Meningioma Grading beyond Histopathology: Relevance of Epigenetic and Genetic Features to Predict Clinical Outcome.

作者信息

Marastoni Elena, Barresi Valeria

机构信息

Department of Diagnostics and Public Health, University of Verona, 37134 Verona, Italy.

出版信息

Cancers (Basel). 2023 May 27;15(11):2945. doi: 10.3390/cancers15112945.

DOI:10.3390/cancers15112945
PMID:37296907
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10251969/
Abstract

Meningiomas are common tumors of the central nervous system. The grading system established by the World Health Organization (WHO) has recently included mutations and homozygous deletions as criteria for grade 3, owing to their association with increased recurrence risk. However, these alterations identify only a portion of meningiomas that are devoid of histopathological malignancy and are prone to recurrence. Over the last few years, the integration of epigenetic, genetic, transcriptomic, and proteomic profiling has led to the identification of three main groups of meningiomas with distinct clinical outcomes and peculiar genetic features. Meningiomas in the first group have the best prognosis, are distinguished by the lack of alterations and chromosomal instability, and may be responsive to cytotoxic drugs. Meningiomas in the second group have an intermediate prognosis and are characterized by alterations, mild chromosomal instability, and enrichment in immune cells. Meningiomas in the third group had the worst prognosis, displayed alterations coupled with high chromosomal instability, and were resistant to cytotoxic treatment. Classification into these three groups predicts the recurrence risk of meningiomas more accurately than WHO grading and could be applicable in routine practice, owing to the possibility of distinguishing the different groups by specific immunostaining.

摘要

脑膜瘤是中枢神经系统常见的肿瘤。世界卫生组织(WHO)制定的分级系统最近将突变和纯合缺失纳入3级标准,因为它们与复发风险增加有关。然而,这些改变仅能识别一部分组织病理学上无恶性特征但易于复发的脑膜瘤。在过去几年中,表观遗传学、遗传学、转录组学和蛋白质组学分析的整合已导致识别出三组主要的脑膜瘤,它们具有不同的临床结局和独特的遗传特征。第一组脑膜瘤预后最佳,其特征是缺乏某些改变和染色体不稳定,可能对细胞毒性药物有反应。第二组脑膜瘤预后中等,其特征是某些改变、轻度染色体不稳定以及免疫细胞富集。第三组脑膜瘤预后最差,表现出某些改变并伴有高度染色体不稳定,且对细胞毒性治疗耐药。与WHO分级相比,将脑膜瘤分为这三组能更准确地预测复发风险,并且由于可以通过特定免疫染色区分不同组,因此可能适用于常规实践。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f489/10251969/8d89b41e98a5/cancers-15-02945-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f489/10251969/8d89b41e98a5/cancers-15-02945-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f489/10251969/8d89b41e98a5/cancers-15-02945-g001.jpg

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