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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)≥5cm和<5cm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。
Objective To investigate the relationship between the mutation of isocitrate dehydrogenase 1 (IDH1) gene and clinicopathological features of human glioma in supratentorial human brain. Methods A total of 95 patients with clinical grade Ⅱ glioma were collected from January 2009 to January 2011 in our hospital for postoperative pathology and clinical data. Through direct sequencing of the IDH1 gene in specimens, the relationship between IDH1 gene mutation and clinicopathological features was analyzed. Results Ninety-nine (72.6%) IDH1 mutations were found in 95 patients, all of which were R132H mutation. The mutation rates of diffuse astrocytoma, oligodendroglioma and mixed oligodendrocyte were 73.6%, 68.8% and 73.1% respectively. The mean age of IDH1 mutant and wild type patients was statistically significant (39.6 ± 7.4 years vs. 46.9 ± 11.6 years, P <0.05). The mutation rates were 43.8% and 78.5% in patients aged> 50 years and <50 years respectively (P <0.05). The mutation rates in male and female patients were 68.6% and 77.3% respectively (P> 0.05) ) Mutation rates were 60.0% and 90.0% respectively in patients with≥5cm and <5cm (P <0.05). The mutation rates in patients with tumors involving only a single lobe and deep tissues were 93.3% and 32.0% (P <0.05) . Conclusion IDH1 has a high mutation rate in WHO Ⅱ glioma. The IDH1 mutation is closely related to the age, tumor size, and growth of the supratentorial WHO grade II glioma patients, regardless of the sex of the patient.