METHODS: Adult patients with IDHwt gliomas admitted between 2011 and 2020 were surveyed. In this particular study, the clinical indolence was defined mainly as having a small enhancing lesion and a stable period for more than 1 month before surgery. The current WHO diagnostic criteria were adapted for the diagnoses. Gene mutations and copy number changes in 43 representative glioma-associated genes, MGMT promoter methylation status, and survival data were compared with those of The Cancer Genome Atlas reference cohort.
RESULTS: Nine out of 180 surveyed cases (5.0%) fulfilled the present criteria of the iDGwt. Considering the representative regulatory pathways, 8 (88.9%), 4 (44.4%), and 1 (11.1%) case had genetic alterations in the PI3K/MAPK, TP53, and RB pathways, respectively. The frequency of the RB pathway alteration was significantly lower than that in the reference cohort (281 of 362 cases: 77.6%). Two cases (22.2%) showing EGFR amplification met the diagnostic criteria for glioblastoma, and the frequency was significantly lower than that in the reference cohort (412 of 426 cases: 96.7%). The overall survival (median: 37.5 months) in the present series was significantly longer than that in the reference cohort (n = 426, median: 13.9 months).
CONCLUSIONS: iDGwt lacked the molecular features of glioblastoma except for the PI3K/MAPK pathway alteration.
方法:对2011年至2020年收治的IDHwt胶质瘤成年患者进行调查。在这项特殊的研究中,临床惰性的定义主要是有一个小的增强病变和手术前1个月以上的稳定期。目前的WHO诊断标准适用于诊断。43个代表性神经胶质瘤相关基因的基因突变和拷贝数变化,MGMT启动子甲基化状态,和生存数据与癌症基因组图谱参考队列进行了比较。
结果:180例调查病例中有9例(5.0%)符合iDGwt的当前标准。考虑到代表性的监管途径,8(88.9%),4(44.4%),1例(11.1%)PI3K/MAPK基因改变,TP53和RB途径,分别。RB通路改变的频率显着低于参考队列(362例中的281例:77.6%)。2例(22.2%)显示EGFR扩增符合胶质母细胞瘤的诊断标准,并且频率显着低于参考队列(426例中的412例:96.7%)。本系列的总生存期(中位数:37.5个月)明显长于参考队列(n=426,中位数:13.9个月)。
结论:iDGwt缺乏胶质母细胞瘤的分子特征,除了PI3K/MAPK通路改变。