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脑肿瘤中 IDH1 和 Vegf 的遗传改变。

Genetic alterations of IDH1 and Vegf in brain tumors.

机构信息

Department of Clinical Analysis Hospital Clínico San Carlos and Hospital Universitario Puerta de Hierro-Majadahonda Majadahonda Madrid Spain.

Department of Neurosurgery Hospital Clínico San Carlos and Hospital Universitario Puerta de Hierro-Majadahonda Majadahonda Madrid Spain.

出版信息

Brain Behav. 2017 Aug 1;7(9):e00718. doi: 10.1002/brb3.718. eCollection 2017 Sep.

Abstract

BACKGROUND

This study evaluates the presence of R132H mutation in isocitrate dehydrogenase () gene and the vascular endothelial growth factor () +936 C/T polymorphism in brain tumors. The impact of these genetic alterations on overall survival (OS) and progression free survival (PFS) was evaluated.

METHODS

A cohort of 80 patients surgically treated at Hospital Clínico San Carlos, Madrid, between March 2004 and November 2012, was analyzed. Tumors were distributed in 73 primary brain tumors (gliomas, meningiomas, hemangiopericytomas and hemangioblastomas) and seven secondary tumors evolved from a low grade glioma, thus providing a mixed sample.

RESULTS

gene mutation was found in 12 patients (15%) and appears more frequently in secondary tumors (5 (71.4%) whereas in 7 (9.7%) primary tumors ( < .001)). The mutation is related to WHO grade II in primary tumors and a supratentorial location in secondary tumors. The OS analysis for showed a tendency towards a better prognosis of the tumors containing the mutation ( = .059).The mutation confers a better PFS ( = .025) on primary tumors. The T allele of +936 C/T polymorphism was found in 16 patients (20%). No relation was found between this polymorphism and primary or secondary tumor, neither with OS or PFS.

CONCLUSIONS

gene mutation is exclusive in supratentorial tumors and more frequent in secondary ones, with a greater survival trend and better PFS in patients who carry it. The T allele of +936 C/T polymorphism is more common in primary tumors, although there is no statistical relation with survival.

摘要

背景

本研究评估了异柠檬酸脱氢酶()基因 R132H 突变和血管内皮生长因子()+936 C/T 多态性在脑肿瘤中的存在。评估了这些遗传改变对总生存期(OS)和无进展生存期(PFS)的影响。

方法

分析了 2004 年 3 月至 2012 年 11 月在马德里圣卡洛斯临床医院接受手术治疗的 80 名患者的队列。肿瘤分为 73 例原发性脑肿瘤(胶质瘤、脑膜瘤、血管外皮细胞瘤和血管母细胞瘤)和 7 例源自低级别胶质瘤的继发性肿瘤,从而提供了混合样本。

结果

在 12 名患者(15%)中发现了基因突变,并且在继发性肿瘤中更为常见(5 例[71.4%],而在 7 例[9.7%]原发性肿瘤中)(<0.001)。突变与原发性肿瘤的 WHO 分级 II 相关,与继发性肿瘤的幕上位置相关。对显示突变肿瘤的 OS 分析显示预后较好的趋势(=0.059)。突变赋予原发性肿瘤更好的 PFS(=0.025)。+936 C/T 多态性的 T 等位基因在 16 名患者(20%)中发现。未发现该多态性与原发性或继发性肿瘤、OS 或 PFS 之间存在关系。

结论

基因突变是幕上肿瘤所特有的,在继发性肿瘤中更为常见,携带该基因突变的患者的生存趋势更好,PFS 更好。+936 C/T 多态性的 T 等位基因在原发性肿瘤中更为常见,但与生存无统计学关系。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/493c/5607534/0d7aa4737549/BRB3-7-e00718-g001.jpg

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