Clinical Sequencing Reveals Diagnostic, Therapeutic, and Prognostic Biomarkers for Adult-type Diffuse Gliomas

Overview

Journal Heliyon

Specialty Social Sciences

Date 2024 Sep 24

PMID 39315202

Authors

Zhenyan Li

Zhenghao Deng

Fangkun Liu

Chuntao Li

Kui Yang

Xuan Gong

Songshan Feng

Yu Zeng

Hongshu Zhou

Fan Fan

Chengke Luo

Zhixiong Liu

Mingyu Zhang

Affiliations

Soon will be listed here.

Abstract

Diffuse gliomas in adults are highly infiltrative and largely incurable. Whole exome sequencing (WES) has been demonstrated very useful in genetic analysis. Here WES was performed to characterize genomic landscape of adult-type diffuse gliomas to discover the diagnostic, therapeutic and prognostic biomarkers. Somatic and germline variants of 66 patients with adult-type diffuse gliomas were detected by WES based on the next-generation sequencing. TCGA and CGGA datasets were included to analyze the integrated diagnosis and prognosis. Among 66 patients, the diagnosis of 9 cases was changed, in which 8 cases of astrocytoma were corrected into -wildtype glioblastoma (GBM), and 1 oligodendroglioma without 1p/19q co-deletion into astrocytoma. The distribution of mutations including differed in three cohorts. The genetic mutations in GBM mainly concentrated on the cell cycle, PI3K and RTK pathways. The mutational landscape of astrocytoma was more similar to that of GBM, with the highest frequency in germline variants. Patients with -mutant astrocytoma harboring SNVs of and showed a significantly worse overall survival (OS) than wild-type patients. amplification was associated with shorter OS in GBM. Our study suggests that clinical sequencing can recapitulate previous findings, which may provide a powerful approach to discover diagnostic, therapeutic and prognostic markers for precision medicine in adult-type diffuse gliomas.

Citing Articles

Genomic Profiling in Glioma Patients to Explore Clinically Relevant Markers.

Varachev V, Susova O, Mitrofanov A, Naskhletashvili D, Krasnov G, Ikonnikova A Int J Mol Sci. 2024; 25(23).

PMID: 39684714 PMC: 11641329. DOI: 10.3390/ijms252313004.

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