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人脑幕上WHOⅡ级胶质瘤IDH1基因突变与临床病理特征的关系
Relationship Between IDH1 Mutation and Clinic Pathologic Features in Human Supratentorial WHO Grade Ⅱ Gliomas
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摘要: 目的 探讨异柠檬酸脱氢酶1(IDH1)基因突变与人脑幕上WHOⅡ级胶质瘤临床病理特征的关系。 方法 收集2009年1月至2011年1月间我科收治的95例幕上WHOⅡ级胶质瘤患者的术后病理标本及临床资料。通过对标本组织IDH1基因直接测序,分析IDH1基因突变与临床病理特征的关系。 结果 95例患者中发现69例(72.6%)IDH1突变,均为R132H型突变。弥漫性星形细胞瘤、少突胶质细胞瘤、混合性少突星形细胞瘤的突变率分别为73.6%、68.8%、73.1%。IDH1突变型和野生型患者平均年龄的差异有统计学意义[(39.6±7.4)岁 vs.(46.9±11.6)岁,P<0.05]。年龄 ≥ 50岁和<50岁组患者的突变率分别为43.8% 和78.5%(P<0.05);男性和女性组的突变率分别为68.6%和77.3%(P>0.05);肿瘤大小(直径) ≥ 5 cm和<5 cm组患者的突变率分别为60.0%和90.0%(P<0.05);肿瘤仅累及单个脑叶和累及深部组织患者的突变率分别为93.3%和32.0%(P<0.05)。 结论 IDH1在幕上WHOⅡ级胶质瘤中突变率较高。IDH1突变与幕上WHOⅡ级胶质瘤患者年龄、肿瘤大小及生长部位密切相关,与患者性别无关。
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关键词:
- 异柠檬酸脱氢酶1基因 /
- WHOⅡ级胶质瘤 /
- 临床病理特征
Abstract: Objective To investigate the relationship between isocitrate dehydrogenase 1 (IDH1) mutation and clinicopathological features in human supratentorial WHO gradeⅡ gliomas. Methods Ninety five supratentorial WHO gradeⅡ glioma patients were treated in our department from January 2009 to January 2011. The clinical data and tumor samples of each patient were collected. IDH1 mutation in the tumor was measured by sequencing the IDH1 gene of tumor specimen. The relationship between IDH1 mutation and the clinicopathological features was analyzed. Results There were 69 cases (72.6%) with IDH1 mutations were found, all of which were R132H type mutations. The mutation rates of diffuse astrocytoma, oligodendroglioma and oligoastrocytoma were 73.6%, 68.8% and 73.1% respectively. The mean ages of IDH1 mutant group and wild type group were significantly different[(39.6±7.4) yr. vs. (46.9±11.6) yr., P<0.05]. The mutant rates of patients aged ≥ 50 years and <50 years were 43.8% and 78.5% respectively (P<0.05), while those of male patients and female patients were 68.6% and 77.3% respectively (P>0.05). The mutant rates of patients whose tumor ≥ 5 cm and <5 cm were 60.0% and 90.0% respectively (P<0.05), while those of monolobe involvement group and deepen structures involvement group were 93.3% and 32.0% respectively (P<0.05). Conclusion The mutation of IDH1 in supratentorial WHO gradeⅡglioma is common, and is associated with patients' age, tumor size and tumor location. -
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