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[Prognostic significance of combined TERT and IDH gene mutation analysis in diffusely infiltrating gliomas].
Zhonghua Bing Li Xue Za Zhi 2018; 47(9):658-663ZB

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.

Authors+Show Affiliations

Department of Pathology, West China Hospital, Chengdu 610041, China.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article

Language

chi

PubMed ID

30220117

Citation

Liu, Q Q., et al. "[Prognostic Significance of Combined TERT and IDH Gene Mutation Analysis in Diffusely Infiltrating Gliomas]." Zhonghua Bing Li Xue Za Zhi = Chinese Journal of Pathology, vol. 47, no. 9, 2018, pp. 658-663.
Liu QQ, Yin XX, Zou Y, et al. [Prognostic significance of combined TERT and IDH gene mutation analysis in diffusely infiltrating gliomas]. Zhonghua Bing Li Xue Za Zhi. 2018;47(9):658-663.
Liu, Q. Q., Yin, X. X., Zou, Y., Yu, T. P., Gong, J., Chen, X. Q., ... Chen, N. (2018). [Prognostic significance of combined TERT and IDH gene mutation analysis in diffusely infiltrating gliomas]. Zhonghua Bing Li Xue Za Zhi = Chinese Journal of Pathology, 47(9), pp. 658-663. doi:10.3760/cma.j.issn.0529-5807.2018.09.002.
Liu QQ, et al. [Prognostic Significance of Combined TERT and IDH Gene Mutation Analysis in Diffusely Infiltrating Gliomas]. Zhonghua Bing Li Xue Za Zhi. 2018 Sep 8;47(9):658-663. PubMed PMID: 30220117.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - [Prognostic significance of combined TERT and IDH gene mutation analysis in diffusely infiltrating gliomas]. AU - Liu,Q Q, AU - Yin,X X, AU - Zou,Y, AU - Yu,T P, AU - Gong,J, AU - Chen,X Q, AU - Nie,L, AU - Xu,M, AU - Zhang,M N, AU - Zhou,Q, AU - Chen,N, PY - 2018/9/18/entrez PY - 2018/9/18/pubmed PY - 2018/10/10/medline KW - DNA mutational analysis KW - Glioma KW - Isocitrate dehydrogenase KW - Prognosis KW - Telomerase SP - 658 EP - 663 JF - Zhonghua bing li xue za zhi = Chinese journal of pathology JO - Zhonghua Bing Li Xue Za Zhi VL - 47 IS - 9 N2 - 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. SN - 0529-5807 UR - https://www.unboundmedicine.com/medline/citation/30220117/[Prognostic_significance_of_combined_TERT_and_IDH_gene_mutation_analysis_in_diffusely_infiltrating_gliomas]_ L2 - http://journal.yiigle.com/LinkIn.do?linkin_type=pubmed&amp;issn=0529-5807&amp;year=2018&amp;vol=47&amp;issue=9&amp;fpage=658 DB - PRIME DP - Unbound Medicine ER -