摘要目的 探讨中国成人幕上胶质瘤中ATRX和p53基因突变在胶质瘤诊断及预后评估中的指导价值.方法 选择整合诊断为WHOⅡ级、Ⅲ级的星形细胞瘤,IDH突变型;弥漫性星形细胞瘤,IDH野生型;WHOⅡ级、Ⅲ级的少突胶质细胞瘤,IDH突变型伴1p/19q共缺失,合计83例.采用免疫组织化学染色法检测ATRX蛋白失表达及p53蛋白过表达情况.分析两者的相关性及其与患者总生存期的关系.结果 WHOⅡ级、Ⅲ级星形细胞瘤,IDH突变型及WHOⅡ级、Ⅲ级少突胶质细胞瘤,IDH突变型伴1p/19q共缺失的病例中的ATRX失表达率为85.19%(23/27)和0(0/53,P<0.01).在ATRX失表达病例中69.57%(16/23)同时存在p53过表达,二者密切相关(P<0.01).生存分析结果提示存在ATRX失表达、p53阴性的患者的总生存期长(P=0.013).结论 ATRX基因突变是较低级别星形细胞起源肿瘤的分子遗传特征之一,可以协助p53用于星形细胞瘤的诊断.ATRX联合p53基因突变检测可用于指导胶质瘤的预后评估.

abstractsObjective To investigate the diagnostic and prognostic implications of ATRX mutation and p53 mutation in patients with glioma. Methods The clinicopathologic and molecular features of Chinese adult glioma patients, including diffuse and anaplastic astroastrocytoma with IDH mutation, oligodendroglioma and anaplastic oligodendroglioma with IDH mutation and 1p/19q co-deletion and diffuse astroastrocytoma with IDH wild type were reviewed and tested for ATRX loss expression and p53 overexpression. Results Loss of ATRX expression was seen in 85. 19% ( 23/27 ) diffuse and anaplastic astroastrocytoma with IDH mutation, higher than that of oligodendroglial tumors ( 0/53;P<0. 01) . Loss of ATRX expression was strongly linked to p53 overexpression( 69. 57%, 16/23) . The patients who lost ATRX expression combined with normal p53 expression survived longer ( P = 0. 013 ) . Conclusions ATRX mutation is a molecular marker for astrocytic tumors. ATRX mutation combined with p53 mutation can predict prognosis of patients with glioma.