IDH1/2基因突变可预测胶质瘤患者更好的疾病预后--印度西部的一项研究

Nikul Gohil, Neha Bhalala, Mittal Mistry, Priti Trivedi, Trupti Trivedi
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引用次数: 0

摘要

简介异柠檬酸脱氢酶(IDH)在细胞代谢中发挥着重要作用。在脑胶质瘤中,IDH1/2基因的突变状态具有重要意义,但印度西部的研究却很有限。因此,本研究试图探讨 IDH1/2 基因突变对印度西部胶质瘤患者的临床影响。材料和方法:共纳入 50 例治疗前组织病理学确诊的星形细胞瘤患者,并使用实时 PCR 检测 IDH1/2 突变。IDH1/2突变与临床病理参数和疾病预后相关。数据由 SPSS 软件进行评估。结果24%的胶质瘤患者(12/50)出现了IDH1/2突变。在12名肿瘤出现IDH突变的患者中,83%的患者出现IDH1突变,而17%的患者出现IDH2突变。此外,在IDH1突变中,分别有80%和20%的患者发现了IDH1 R132H和IDH1 R132C突变。当与临床病理参数相关时,发现与患者年龄(χ2= 9.75,r=-0.476,p=0.001)和肿瘤分级(χ2=17.51,r=-0.636,p=0.0001)呈显著的反相关。在卡普兰-米尔生存分析中,年龄(Log rank=5.443,p=0.020)、IDH突变状态(Log rank=3.855,p=0.050)以及IDH突变和低级别胶质瘤肿瘤(Log rank=6.492,p=0.039)仍是预测胶质瘤患者24个月PFS和OS的重要参数。然而,在使用 Cox 比例危险前向逐步模型进行的多变量生存分析中,只有低级别胶质瘤与 IDH 突变的组合在第一步成为预测较好的 PFS(HR=2.92,95% CI=1.12-7.61,p=0.028)和 OS(HR=3.0,95% CI=1.45-6.19,p=0.003)的具有积极意义的独立预后因素。结论基于这些数据,我们得出结论:对于胶质瘤患者而言,除了患者年龄外,低级别肿瘤伴有IDH突变仍是重要的独立阳性预后指标,有助于临床医生更好地管理胶质瘤患者。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Mutations in IDH1/2 Genes Predict Better Disease Outcome of Glioma Patients-A Study from Western India
Introduction: Isocitrate Dehydrogenase (IDH) plays an important role in cellular metabolism. In gliomas, the mutational status of IDH1/2 genes have paramount significance, however, study from Western India is limited. Therefore, the current study we sought to explore the clinical impact of IDH1/2 mutations for glioma patients from Western India. Materials and Method: A total of 50 pre-therapeutic, histopathologically confirmed patients with astrocytoma tumors were included and IDH1/2 mutations were detected using real-time PCR. IDH1/2 mutations were correlated with clinicopathological parameters and disease outcome. Data was evaluated by SPSS software. Results: The overall incidence of IDH1/2 mutations was noted in 24% (12/50) of glioma patients. Out of 12 patients whose tumors showed IDH mutations, 83% patients have IDH1 mutations, whereas 17% showed IDH2 mutation. Further, in IDH1 mutations, IDH1 R132H & IDH1 R132C mutations were noted in, 80% and 20% of patients, respectively. When correlated with clinicopathological parameters, significant inverse correlation was found with patients age (χ2= 9.75, r = -0.476, p=0.001) and grade of tumors (χ2=17.51, r =-0.636, p=0.0001). In Kaplan-Meier survival analysis, a part from age (Log rank=5.443, p=0.020), IDH mutation status (Log rank=3.855, p=0.050), and both, IDH mutation and low grade glioma tumors (Log rank=6.492, p=0.039) remained significant parameters for predicting better 24 months PFS and OS of glioma patients. However, in multivariate survival analysis using Cox Proportional Hazard Forward Stepwise Model, only combination of low grade glioma with presence of IDH mutation emerged at step one as positive significant independent prognostic factor that predict better PFS (HR=2.92, 95% CI=1.12-7.61, p=0.028) and OS (HR=3.0, 95% CI=1.45-6.19, p=0.003). Conclusion: Based on this data, we concluded that for glioma patients, apart from patients age, low grade tumors with presence of IDH mutations remained significant independent positive prognosticators and would be helpful to clinicians for better management of glioma patients.
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