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幕上高级别星形细胞瘤中IDH1基因突变及其与预后的关系
Correlation Between IDH1 Mutation and Prognosis in Supratentorial High-grade Astrocytomas
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摘要: 目的 探讨高级别星形细胞瘤中异柠檬酸脱氢酶1(isoeitratedehydrogenasel 1,IDH1)基因突变及其与预后的关系,为临床诊断及治疗提供理论依据。 方法 提取217例幕上高级别星形细胞瘤手术石蜡切片标本DNA,采用PCR及直接测序分析IDH1突变情况;比较IDH1基因突变型组与野生型组之间的临床特征差异;对IDH1基因突变与患者生存时间关系用Kaplan-Meier生存曲线表示,采用COX回归模型进行多因素分析。 结果 IDH1突变43例,突变率19.3%,其中WHOⅢ级发生IDH1突变9例,突变率24.3%,WHOⅣ级发生IDH1突变34例,突变率18.9%;WHOⅣ级中原发性胶质母细胞瘤(GBM)突变组平均年龄39.17岁,野生型组平均年龄47.66岁,两组发病年龄比较差异具有统计学意义(P<0.05);IDH1突变组中位生存时间为64周,野生型组中位生存时间为50周,突变组与野生型组生存时间比较差异有统计学意义(P<0.001);Cox风险比例模型表明,IDH1是否突变、手术切除程度、术前Karnofsky评分以及术后是否放、化疗间的生存时间差异具有统计学意义(P<0.05)。 结论 幕上高级别星形细胞瘤中可发生IDH1基因突变,在原发性GBM患者中年青者易发生IDH1突变,IDH1基因突变对患者生存时间有明显影响,发生IDH1突变者预后较好,IDH1突变是高级别星形细胞瘤预后的独立指标,对判断高级别星形细胞瘤的预后有重要价值。Abstract: Objective To study the correlation between isoeitratedehydrogenasel 1 (IDH1) mutation and prognosis in supratentorial high-grade astrocytomas. Methods There were 217 samples of supratentorial high-grade astrocytomas specimens collected for DNA extraction, IDH1 mutation of each patient was determined by PCR and direct sequencing. The differences of clinical features were compared between mutant group and wild type group. The relationship between IDH1 mutation and overall survival of the patients was studied with Kaplan-Meier survival curve, while multiple factors analysis was carried out by COX regression model. Results There were 43 (19.3%) IDH1 mutations in 217 specimens, of which 9 (24.3%) in WHO grade Ⅲ, 34 (18.9%) in WHO grade Ⅳ. The mean age of primary glioblastoma multiforme (GBM) in mutant type group and wild type group were 39.17 and 47.66 years old respectively (P<0.05). The median survival time was 64 weeks for the patients in IDH1 mutation group and 50 weeks for those in wild type group, and the difference was statistically significant (P<0.001). The median survival time was 51 weeks for the wild type group of WHO grade Ⅲ cases and 58 weeks for the mutant group of WHO grade Ⅳ cases (P<0.001). COX multiple variable analysis showed that IDH1 mutation, surgical resection, preoperative Karnofsky performance, radiotherapy and chemotherapy were statistically significant in prognosis (P<0.05). Conclusion IDH1 mutation can be found in supratentorial high-grade astrocytomas, the patients with IDH1 mutation may have a better prognosis.
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Keywords:
- IDH1 /
- Mutation /
- High-grade astrocytomas /
- Prognosis
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