BRAF V600E, TERT, and IDH2 Mutations in Pleomorphic Xanthoastrocytoma: Observations from a Large Case-Series Study
BRAF V600E, TERT, and IDH2 Mutations in Pleomorphic Xanthoastrocytoma: Observations from a Large Case-Series Study
复制标题
多形性黄色星形细胞瘤中的 BRAF V600E、TERT 和 IDH2 突变：大型病例系列研究的观察结果
DOI：
10.1016/j.wneu.2018.09.050
复制
发表时间：
2018-12-01
影响因子：
2
通讯作者：
Wu, Jinsong
中科院分区：
文献类型：
--
作者：
Ma, Chengxin;Feng, Rui;Wu, Jinsong
背景技术背景：在2016年世界卫生组织（WHO）中枢神经系统肿瘤分类中，将间变性多形性黄色星形细胞瘤（PXA）添加到III级神经胶质肿瘤中作为一个独特的实体。我们回顾性分析了55例经病理证实的PXA病例，根据最新的WHO分类，以更好地阐明这种罕见的肿瘤的临床，分子和预后特征。方法：共55例经病理证实的PXA病例根据最新的WHO分类进行回顾性分析。BRAF、TERT、IDH1/2和H3F3A测序后，进行生存分析以确定影响生存率的因素。结果：BRAF V600E突变的患者通常比没有突变的患者年轻，尽管没有统计学意义（分别为27.9 +/-15.4岁和37.1 +/-17.0岁，P = 0.054）。PXA患者的TERT启动子突变频率低于间变性PXA患者，但无统计学意义（4.4%和28.6%，P = 0.083）。在预后方面，间变性PXA患者的总生存期和无进展生存期均短于PXA患者。与次全切除的PXA患者相比，全切除亚组的中位OS（未达到vs. 60.0个月，P = 0.0221）和PFS（未达到vs. 60.0个月，P = 0.0232）较长。结论：PXA中BRAF V600E、TERT和IDH2突变的鉴定扩展了我们对PXA的分子理解。PXA患者行大体全切除可获得良好的结局。
BACKGROUND: Anaplastic pleomorphic xanthoastrocytoma (PXA) was added to grade III glial tumors as a distinct entity in the 2016 World Health Organization (WHO) classification of tumors of the central nervous system. We retrospectively reviewed and analyzed 55 pathologically confirmed PXA cases according to the newest WHO classification to better clarify the clinical, molecular, and prognostic features of this rare neoplasm.METHODS: In total, 55 pathologically confirmed PXA cases according to the newest WHO classification were retrospectively reviewed and analyzed. After sequencing for BRAF, TERT, IDH1/2, and H3F3A, survival analysis was performed to determine the factors affecting survival.RESULTS: The patients with BRAF V600E mutations were generally younger than those without it, although not statistically significant (27.9 +/- 15.4 years and 37.1 +/- 17.0 years, respectively, P = 0.054). TERT promoter mutation frequency in PXA was lower than in patients with anaplastic PXA although not statistically significant (4.4% and 28.6%, P = 0.083). One instance of PXA with IDH2 mutation, and no IDH1 and H3F3A mutations were found. In terms of prognosis, patients with anaplastic PXA had shorter overall survival and progression-free survival compared with patients with PXA. The subgroup with gross total resection had a longer median OS (not reached vs. 60.0 months, P = 0.0221) and PFS (not reached vs. 60.0 months, P = 0.0232) compared with patients with PXA with subtotal resection.CONCLUSIONS: The identification of BRAF V600E, TERT, and IDH2 mutations in PXA expands our molecular understanding of PXA. Patients with PXA with gross total resection achieve good outcomes.