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IDH1 突变是原发性多形性胶质母细胞瘤的预后标志物,但 MGMT 甲基化不是原发性多形性胶质母细胞瘤的预后标志物。

IDH1 mutations is prognostic marker for primary glioblastoma multiforme but MGMT hypermethylation is not prognostic for primary glioblastoma multiforme.

机构信息

Department of Medical Genetics, Faculty of Medicine, Near East University, Nicosia, Mersin 10, Turkey; Department of Medical Genetics, School of Medicine, Eskisehir Osmangazi University, Eskisehir, Turkey.

Department of Medical Genetics, School of Medicine, Eskisehir Osmangazi University, Eskisehir, Turkey; Acibadem University, Department of Molecular Biology and Genetics, Istanbul, Turkey.

出版信息

Gene. 2015 Jan 1;554(1):81-6. doi: 10.1016/j.gene.2014.10.027. Epub 2014 Oct 14.

Abstract

PURPOSE

To establish the frequency of IDH1 mutations and MGMT methylation in primary glioblastomas.

EXPERIMENTAL DESIGN

We screened primary glioblastoma multiforme (GBM) in a population-based study for IDH1 mutations and MGMT methylation and correlated them with clinical data.

RESULTS

IDH1 mutations were detected in 5 of 40 primary glioblastomas (12,5%). Primary GBM patients carrying IDH1 mutations were significantly younger, mean age of 41±5.06years, than patients with wild-type IDH1, mean age of 57±2,29years, p=0.011. The mean survival time of all GBM patients with and without IDH1 mutations was 19months (5 cases) and 16months (35 cases), respectively (p>0,05). MGMT methylation was detected in 13 of the 40 patients (32,5%). MGMT-promoter methylation did not correlate with overall survival (OS; p>0,05).

CONCLUSION

In summary, our study is the first study to investigate the IDH1 mutation status and MGMT methylation in primary GBMs in Turkish population and confirmed IDH1 mutation as a genetic marker for also primary GBMs. Our data are still insufficient for definite ascertainment; and our preliminary results suggest: IDH1 status shows an association with younger age and there is a lack of association between IDH1 mutation and survival time. Furthermore MGMT promoter methylation had no prognostic value and lower frequency in primary glioblastomas.

摘要

目的

确定 IDH1 突变和 MGMT 甲基化在原发性胶质母细胞瘤中的频率。

实验设计

我们在一项基于人群的研究中筛选了 IDH1 突变和 MGMT 甲基化的原发性多形性胶质母细胞瘤(GBM),并将其与临床数据相关联。

结果

在 40 例原发性 GBM 中检测到 5 例 IDH1 突变(12.5%)。携带 IDH1 突变的原发性 GBM 患者明显年轻,平均年龄为 41±5.06 岁,而 IDH1 野生型患者的平均年龄为 57±2.29 岁,p=0.011。所有具有和不具有 IDH1 突变的 GBM 患者的平均生存时间分别为 19 个月(5 例)和 16 个月(35 例)(p>0.05)。在 40 例患者中,有 13 例(32.5%)检测到 MGMT 甲基化。MGMT 启动子甲基化与总生存期(OS)无关(p>0.05)。

结论

总之,我们的研究是首次在土耳其人群中调查原发性 GBM 中的 IDH1 突变状态和 MGMT 甲基化,并证实 IDH1 突变也是原发性 GBM 的遗传标志物。我们的数据仍然不足以确定;我们的初步结果表明:IDH1 状态与年龄较小有关,而 IDH1 突变与生存时间之间没有关联。此外,MGMT 启动子甲基化在原发性胶质母细胞瘤中无预后价值且频率较低。

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