10031-GGE-2 GENOMIC ANALYSIS OF MENINGIOMA USING GENE PANEL TESTING

S. Ohba, E. Sugihara, Seiji Yamada, Daijiro Kojima, Kazutaka Nakao, Eiji Fujiwara, Masanobu Kumon, Masahiro Joko, Y. Nishiyama, Jun Muto, S. Nakae, K. Adachi, Masato Abe, Hideyuki Saya, Yuichi Hirose
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Abstract

Abstract Recently, cancer gene panel tests have been covered by insurance and their usefulness has been reported. In addition to the cancer gene panel tests covered by insurance, we are conducting the PleSSision-Rapid test, a cancer gene panel test that can measure 143 genes, as a clinical research project. The former has been used for 14 cases brain tumors, and the latter has been used for brain tumors in about 100 cases, respectively. The PleSSision-Rapid test has now completed analysis of 87 cases, with gliomas accounting for 33, meningiomas for 29, and metastatic brain tumors for 14 cases. Tumor mutation burden (TMB) was high in 18 cases, and microsatellite instability was high in none. NTRK gene fusion was observed in 1 case. Of the 29 meningiomas, 9 were male and 20 female, ranging in age from 31 to 79 years (mean 57). Twenty of the cases were located at the skull base. Twenty four were primary cases, whereas 5 were recurrent cases. WHO grade 1, 2, and 3 were 23, 4, and 2, respectively. There was no difference in TMB among grades, and Ki-67 values increased with increasing grade. Comparing grade 1 and grade 2/3, NF2 and KDM6A were found to be significantly different in the rate of gene mutations. Grade 2/3 patients had a significantly higher frequency of copy number aberrations such as genes related to DNA repair, histone modification, and chromatin remodeling, than grade 1 patients,
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10031-GGE-2 利用基因组测试对脑膜瘤进行基因组分析
近年来,癌症基因面板检测已被保险覆盖,其有效性已被报道。除了保险范围内的癌症基因检测外,还作为临床研究项目,正在进行可检测143个基因的癌症基因检测“plesssion - rapid”。前者治疗了14例脑瘤,后者治疗了约100例脑瘤。PleSSision-Rapid测试目前已经完成了87例的分析,其中胶质瘤33例,脑膜瘤29例,转移性脑瘤14例。肿瘤突变负荷(TMB)高18例,微卫星不稳定性高无一例。NTRK基因融合1例。29例脑膜瘤中,男性9例,女性20例,年龄31 ~ 79岁,平均57岁。其中20例位于颅底。原发病例24例,复发病例5例。WHO 1级、2级和3级分别为23、4和2。各年级间TMB无显著差异,Ki-67值随年级升高而升高。比较1级和2/3级,发现NF2和KDM6A在基因突变率上存在显著差异。2/3级患者的拷贝数畸变频率明显高于1级患者,如与DNA修复、组蛋白修饰和染色质重塑相关的基因。
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