TERT promoter mutated WHO grades II and III gliomas are located preferentially in the frontal lobe and avoid the midline
Publication in refereed journal



摘要The promoter region of telomerase reverse transcriptase (TERTp) and isocitrate dehydrogenase (IDH) have been regarded as biomarkers with distinct clinical and phenotypic features. Investigated the possible correlations between tumor location and genetic alterations would enhance our understanding of gliomagenesis and heterogeneity of glioma. We examined mutations of TERTp and IDH by direct sequencing and fluorescence in-situ hybridization in a cohort of 225 grades II and III diffuse gliomas. Correlation analysis between molecular markers and tumor locations was performed by Chi-square tests/Fisher's exact test and multivariate logistic regression analysis. We found gliomas in frontal lobe showed higher frequency of TERTp mutation (P = 0.0337) and simultaneously mutations of IDH and TERTp (IDHmut- TERTp(mut)) (P = 0.0281) than frequency of biomarkers mutation of tumors in no-Frontal lobes, while lower frequency of TERTp mutation (P < 0.0001) and simultaneously wild type of IDH and TERTp (IDHwt-TERTp(wt)) (P < 0.0001) in midline than no-midline lobes. Logistic regression analysis indicated that locations of tumors associated with TERTp mutation (OR = 0.540, 95% CI 0.324-0.900, P = 0.018) and status of combinations of IDH and TERTp (IDHmut- TERTp(mut) vs. IDHwt-TERTp(wt) OR = 0.162, 95% CI 0.075-0.350, P < 0.001). In conclusion, grades II and III gliomas harboring TERTp mutation were located preferentially in the frontal lobe and rarely in midline. Association of IDH-TERTp status and tumor location suggests their potential values in molecular classification of grades II and III gliomas.
著者Sun ZL, Chan AKY, Chen LC, Tang C, Zhang ZY, Ding XJ, Wang Y, Sun CR, Ng HK, Yao Y, Zhou LF
期刊名稱International Journal of Clinical and Experimental Pathology
頁次11485 - U6927
關鍵詞Gliomas; heterogeneity; IDH mutation; TERT promoter mutation; tumor location
Web of Science 學科類別Oncology; Pathology

上次更新時間 2020-25-09 於 00:19