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胶质母细胞瘤伴少突胶质细胞瘤成分(GBM-O):分子遗传学和临床特征。

Glioblastoma with oligodendroglioma component (GBM-O): molecular genetic and clinical characteristics.

机构信息

Department of Pathology and Laboratory Medicine, Emory University School of Medicine, Atlanta, GA 30322, USA.

出版信息

Brain Pathol. 2013 Jul;23(4):454-61. doi: 10.1111/bpa.12018. Epub 2013 Jan 30.

DOI:10.1111/bpa.12018
PMID:23289977
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC4868066/
Abstract

Glioblastoma (GBM) is an aggressive primary brain tumor with an average survival of approximately 1 year. A recently recognized subtype, glioblastoma with oligodendroglioma component (GBM-O), was designated by the World Health Organization (WHO) in 2007. We investigated GBM-Os for their clinical and molecular characteristics as compared to other forms of GBM. Tissue samples were used to determine EGFR, PTEN, and 1p and 19q status by fluorescence in situ hybridization (FISH); p53 and mutant IDH1 protein expression by immunohistochemistry (IHC); and MGMT promoter status by methylation-specific polymerase chain reaction (PCR). GBM-Os accounted for 11.9% of all GBMs. GBM-Os arose in younger patients compared to other forms of GBMs (50.7 years vs. 58.7 years, respectively), were more frequently secondary neoplasms, had a higher frequency of IDH1 mutations and had a lower frequency of PTEN deletions. Survival was longer in patients with GBM-Os compared to those with other GBMs, with median survivals of 16.2 and 8.1 months, respectively. Most of the survival advantage for GBM-O appeared to be associated with a younger age at presentation. Among patients with GBM-O, younger age at presentation and 1p deletion were most significant in conferring prolonged survival. Thus, GBM-O represents a subset of GBMs with distinctive morphologic, clinical and molecular characteristics.

摘要

胶质母细胞瘤(GBM)是一种侵袭性原发性脑肿瘤,平均存活期约为 1 年。最近被世界卫生组织(WHO)在 2007 年指定的一个亚型,即具有少突胶质细胞瘤成分的胶质母细胞瘤(GBM-O)。我们研究了 GBM-O 的临床和分子特征,以将其与其他类型的 GBM 进行比较。通过荧光原位杂交(FISH)测定组织样本中的 EGFR、PTEN 和 1p 和 19q 状态;通过免疫组织化学(IHC)测定 p53 和突变 IDH1 蛋白表达;通过甲基化特异性聚合酶链反应(PCR)测定 MGMT 启动子状态。GBM-O 占所有 GBM 的 11.9%。与其他类型的 GBM 相比,GBM-O 发生在年龄较小的患者中(分别为 50.7 岁和 58.7 岁),更常为继发性肿瘤,IDH1 突变频率更高,PTEN 缺失频率更低。与其他 GBM 患者相比,GBM-O 患者的生存时间更长,中位生存时间分别为 16.2 个月和 8.1 个月。GBM-O 的生存优势主要与发病时年龄较小有关。在 GBM-O 患者中,发病时年龄较小和 1p 缺失与延长生存时间最相关。因此,GBM-O 代表了具有独特形态、临床和分子特征的 GBM 亚群。

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IDH1 and IDH2 mutations, immunohistochemistry and associations in a series of brain tumors.异柠檬酸脱氢酶 1 和 2 突变、免疫组织化学及一系列脑肿瘤中的关联。
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