Prognostic significance of combined TERT and IDH gene mutation analysis in diffusely infiltrating gliomas
10.3760/cma.j.issn.0529-5807.2018.09.002
- VernacularTitle: 弥漫浸润性胶质肿瘤中TERT和IDH突变联合分析的预后价值
- Author:
Qianqi LIU
1
;
Xiaoxue YIN
;
Yan ZOU
;
Tianping YU
;
Jing GONG
;
Xueqin CHEN
;
Ling NIE
;
Miao XU
;
Mengni ZHANG
;
Qiao ZHOU
;
Ni CHEN
Author Information
1. Department of Pathology, West China Hospital, Chengdu 610041, China
- Publication Type:Journal Article
- Keywords:
Glioma;
Telomerase;
Isocitrate dehydrogenase;
DNA mutational analysis;
Prognosis
- From:
Chinese Journal of Pathology
2018;47(9):658-663
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To investigate the status and prognostic significance of TERT and IDH1/2 genes mutations in diffusely infiltrating gliomas.
Methods:Hot spot mutations of TERT and IDH1/2 genes were detected by DNA sequencing in 236 cases of gliomas at West China Hospital from 2012 to 2016, including pilocytic astrocytoma (WHO grade Ⅰ, 16 cases), diffuse astrocytoma and oligodendroglioma (WHO grade Ⅱ, 89 cases), anaplastic astrocytoma and oligodendroglioma (WHO grade Ⅲ, 72 cases) and glioblastoma (WHO grade Ⅳ, 59 cases). The prognostic significance of TERT and IDH1/2 hot spot mutations was evaluated.
Results:No IDH or TERT mutations were detected in pilocytic gliomas. TERT promoter mutation frequency was higher in patients aged ≥40 years(60.8%, 93/153) than in patients aged <40 years (32.8%, 22/67; P<0.01). TERT promoter mutation rate was also significantly higher in oligodendroglioma (87.5% , 56/64) than that in astrocytoma(37.8%, 59/156; P<0.01). Young age (<40 years), oligodendroglioma and IDH1 mutation were favorable prognostic factors for diffusely infiltrating astrocytic and oligodendroglial tumors. TERT mutation alone was not of prognostic significance. Diffusely infiltrating astrocytic and oligodendroglial tumors were divided into four molecular subtypes according to TERT and IDH1 mutation status: IDH(+ )/TERT(+ ), IDH(+ )/TERT(-), IDH(-)/TERT(-) and IDH(-)/TERT(+ ). There was significant prognostic difference among the 4 subtypes.
Conclusions:Combined IDH and TERT gene mutation analysis may be useful for prognostic subgrouping. Notably, IDH1 wild-type cases can be further subdivided into TERT(+ ) or (-) subgroups with significant prognostic difference.
