Original Article
Prognostic significance of combined TERT and IDH gene mutation analysis in diffusely infiltrating gliomas
Qianqi Liu, Xiaoxue Yin, Yan Zou, Tianping Yu, Jing Gong, Xueqin Chen, Ling Nie, Miao Xu, Mengni Zhang, Qiao Zhou, Ni Chen
Published 2018-09-08
Cite as Chin J Pathol, 2018, 47(9): 658-663. DOI: 10.3760/cma.j.issn.0529-5807.2018.09.002
Abstract
ObjectiveTo investigate the status and prognostic significance of TERT and IDH1/2 genes mutations in diffusely infiltrating gliomas.
MethodsHot 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.
ResultsNo 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.
ConclusionsCombined 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.
Key words:
Glioma; Telomerase; Isocitrate dehydrogenase; DNA mutational analysis; Prognosis
Contributor Information
Qianqi Liu
Department of Pathology, West China Hospital, Chengdu 610041, China
Xiaoxue Yin
Yan Zou
Tianping Yu
Jing Gong
Xueqin Chen
Ling Nie
Miao Xu
Mengni Zhang
Qiao Zhou
Ni Chen