TY -的T1 - < em > FGFR1 < / em >可操作的突变,成人正中神经胶质瘤分子特异性,结果JF -神经学乔-神经病学SP - e2086 LP - e2094做- 10.1212 / WNL。首页0000000000005658六世- 90 - 23 AU -阿尔贝托Picca盟会Berzero AU -弗兰克Bielle盟Mehdi Touat AU -朱利安Savatovsky AU - Marc Polivka盟Elena Trisolini盟Sheida贝盟Yohann施密特AU -艾哈迈德Idbaih盟Khe Hoang-Xuan盟——让Delattre盟——(Karima Mokhtari称非盟-安娜路易莎迪斯蒂法诺盟Marc桑丘Y1 - 2018/06/05 UR - //www.ez-admanager.com/content/90/23/e2086.abstract N2 -客观描述主要驱动力的患病率和预后意义的分子改变成人中线弥漫性神经胶质瘤(MLG)。首页病理组织切片证实方法成人MLG诊断肿瘤在1996年和2017年之间被确认从我们银行,系统地回顾和重新分类根据世卫组织2016年。目标序列进行,包括确定H3F3A HIST1H3B, TERTp, IDH1/2, FGFR1、p16 / CDKN2A和表皮生长因子受体状态。结果共有116名成人患者(M / F 71/45,平均年龄46.5岁)与MLG(17小脑,8脊髓,30脑干,57丘脑,和4间脑的nonthalamic)被确定。大多数病人有高档疾病报告(II级:11%,三级:15%,等级4:75%)。中位总生存期是17.3个月(14.5 - -23.8个月)。主要分子改变观察叔子,H3F3A和热点FGFR1 (N546和K656)突变,在37%,34%,和18%的病人,分别。只存在IDH1突变影响脑干神经胶质瘤(6/24和0/78;p = 7.5×10−5),大多是non-R132H(对比与半球神经胶质瘤,p = 0.0001),并与长生存(54和12个月)。叔子突变(9.1 vs 24.2个月),CDKN2A删除(9.9 vs 23.8个月)和表皮生长因子受体放大(4.3 vs 23.8个月)与短生存有关。 Of interest, in contrast with pediatric MLG, H3K27M mutations were not associated with worse prognosis (23 vs 15 months).Conclusions Patients with adult MLG present with unique clinical and molecular characteristics, differing from their pediatric counterparts. The identification of potentially actionable FGFR1 mutations in a subset of adult MLG highlights the importance of comprehensive genomic analysis in this rare affection.CI=confidence interval; MLG=midline gliomas; OS=overall survival ER -