| Objective:In recent years,the molecular characterization of gliomas has been further studied.More and more studies have shown that the molecular characterization of gliomas and its related signaling pathways are involved in the occurrence and development of gliomas and have an important impact on the proliferation,invasion and metastasis of gliomas.In-depth analysis of these molecular features can help to classify gliomas with similar histological but significant different biological behaviors into various types.This helps us to carry out individualized treatment for patients with different types of gliomas in clinical course,so as to improve the prognosis of every single patient and truly achieve precise diagnosis and treatmentMethods:This study included 129 patients who underwent surgical treatment between March 2016 and October 2018 in the Department of Neurosurgery,Qilu Hospital of Shandong University,were confirmed gliomas by postoperative pathology.Frozen tumor tissues and paired blood specimens of 129 patients were tested for whole exome sequencing and 129 patients were closely followed up.The clinical data and exon data were combined for statistical analysis.Result:1.Analysis of IDH mutations:there is no significant difference in the frequency of IDH mutations between male and female glioma patients(P>0.05);the frequency of IDH mutations in young patients is higher than in old patients(P<0.05);the frequency of IDH mutations in patients with low-grade gliomas is higher than in patients with high-grade gliomas(P<0.05);the frequency of IDH mutations in patients with recurrent gliomas is higher than in patients with primary gliomas(P<0.05).2.Analysis of lp/19q-codeleted:there was no significant difference in the frequency of lp/19q-codeleted between different genders,different age groups,low and high grade gliomas,and primary and recurrent gliomas(P>0.05);The frequency of lp/19q-codeleted in patients with IDH-mutant gliomas is higher than in patients with IDH-wildtype gliomas(P<0.05).3.Analysis of TERT promoter mutations:there is no significant difference in the frequency of TERT promoter mutations between different genders,different age groups,low and high grade gliomas,primary and recurrent gliomas,and IDH-mutant and IDH-wildtype gliomas(P>0.05);the frequency of TERT promoter mutations in patients with lp/19q-codeleted gliomas is higher than in patients with lp/19q-intact gliomas(P<0.05);there is no significant difference in the frequency of TERT promoter mutations between the“Oligodendroglioma"group and the "Glioblastoma-wt" group(P>0.0167);the frequency of TERT promoter mutations in the "Astrocytoma-mut" group is lower than in the“Oligodendroglioma" group(P<0.0167),the frequency of TERT promoter mutations in the "Astrocytoma-mut" group is lower than in the s Glioblastoma-wt"group(P<0.0167).4.Analysis of ATRX mutations:there is no significant difference in the frequency of ATRX mutations between different age groups,low and high grade gliomas,primary and recurrent gliomas,IDH-mutant and IDH-wildtype gliomas,1p/19q-codeleted and lp/19q-intact gliomas,and TERT promoter mutant and TERT promoter wildtype gliomas(P>0.05);the frequency of ATRX mutations in female patients is higher than in male patients(P<0.05);there is no significant difference in the frequency of ATRX mutations between the "Oligodendroglioma"group and the "Glioblastoma-wt"group(P>0.0167);there is no significant difference in the frequency of ATRX mutations between the;"Astrocytoma-mut"group and the "Glioblastoma-wt" group(P>0.0167);the frequency of ATRX gene mutations in the "Astrocytoma-mut" roup is higher than in the"Glioblastoma-wt" group(P<0.0167).5.Analysis of TP53 mutations:there is no significant difference in the frequency of TP53 mutations between different genders,low and high grade gliomas,primary and recurrent gliomas,lp/19q-codeleted and lp/19q-intact gliomas,and TERT promoter mutant and TERT promoter wildtype gliomas(P>0.05);the frequency of TP53 gene mutations in young patients is higher than in old patients(P<0.05);the frequency of TP53 mutations in patients with IDH-mutant gliomas is higher than in patients with IDH-wildtype gliomas(P<0.05);the frequency of TP53 gene mutations in patients with ATRX-mutant gliomas is higher than in patients with ATRX-wildtype gliomas(P<0.05);there is no significant difference in the frequency of ATRX mutations between the "Oligodendroglioma" group and the"Glioblastoma-wt" group(P>0.0167);the frequency of ATRX mutations in the"Astrocytoma-mut" group is higher than in the "Oligodendroglioma"group(P<0.0167),the frequency of ATRX mutations in the "Astrocytoma-mut" group is higher than in the“Glioblastoma-wt" group(P<0.0167).6.Analysis of UGT1A6 H54Q mutation:there is no significant difference in the frequency of UGT1A6 H54Q mutation between different genders,different age groups,low and high grade gliomas,primary and recurrent gliomas,IDH-mutant and IDH-wildtype gliomas,lp/19q-codeleted and lp/19q-intact gliomas,TERT promoter mutant and TERT promoter wildtype gliomas,ATRX-mutant and ATRX-wildtype gliomas,and TP53-mutant and TP53-wildtype gliomas(P>0.05);there is no significant difference in the frequency of U541A6 H54Q mutation between the“Oligodendroglioma",the "Glioblastoma-wt",and the"Astrocytoma-mut" group(P>0.05);the median survival time of patients with UGT1A6 H54Q mutant gliomas(14.4±7.9 months)is shorter than that(21.7±8.0 months)of patients with UGT1A6 H54Q wildtype gliomas(P<0.05).Conclusion:1.IDH mutation,lp/19q-codeleted,TERT promoter mutation,ATRX mutation,TP53 mutation,H3F3A and HIST1H3B/C mutation,BRAF mutation are important molecular features of gliomas,and can be used for accurate classification and prognosis of gliomas,to guide the precise diagnosis and treatment of glioma patients.2.UGT1A6 H54Q mutation has no obvious correlation with gender,age,tumor grades,tumor source and other molecular characteristics,but its presence predicts patients with poor prognosis.UGT1A6 H54Q mutation can be used as a potential molecular feature of glioma and it is an independent factor that may predict the poor prognosis of gliomas. |
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