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Clinical Application of Comprehensive Genomic Profiling Tests for Diffuse Gliomas

by Yanagisawa, Shunsuke , Hirata, Makoto , Tamura, Yukie , Kawauchi, Daisuke , Kikuchi, Miyu , Igaki, Hiroshi , Omura, Takaki , Miyakita, Yasuji , Nakano, Tomoyuki , Hosoya, Tomohiro , Satomi, Kaishi , Sudo, Kazuki , Okuma, Hitomi S. , Sunami, Kuniko , Narita, Yoshitaka , Yonemori, Kan , Takahashi, Masamichi , Ichimura, Koichi , Yoshida, Akihiko , Shimoi, Tatsunori , Ohno, Makoto , Suzuki, Hiromichi

in Brain cancer / Brain tumors / Genomics / Glioblastoma / Glioma / Health insurance / Insurance coverage / Microsatellite instability / Mutation / Next-generation sequencing / p53 Protein / Patients / PTEN protein

2022

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Clinical Application of Comprehensive Genomic Profiling Tests for Diffuse Gliomas

2022

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Clinical Application of Comprehensive Genomic Profiling Tests for Diffuse Gliomas

2022

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Journal Article

Clinical Application of Comprehensive Genomic Profiling Tests for Diffuse Gliomas

Yanagisawa, Shunsuke,

Hirata, Makoto,

Tamura, Yukie,

Kawauchi, Daisuke,

Kikuchi, Miyu,

Igaki, Hiroshi,

Omura, Takaki,

Miyakita, Yasuji,

Nakano, Tomoyuki,

Hosoya, Tomohiro,

Satomi, Kaishi,

Sudo, Kazuki,

Okuma, Hitomi S.,

Sunami, Kuniko,

Narita, Yoshitaka,

Yonemori, Kan,

Takahashi, Masamichi,

Ichimura, Koichi,

Yoshida, Akihiko,

Shimoi, Tatsunori,

Ohno, Makoto,

Suzuki, Hiromichi

2022

Overview

Next-generation sequencing-based comprehensive genomic profiling test (CGPT) enables clinicians and patients to access promising molecularly targeted therapeutic agents. Approximately 10% of patients who undergo CGPT receive an appropriate agent. However, its coverage of glioma patients is seldom reported. The aim of this study was to reveal the comprehensive results of CGPT in glioma patients in our institution, especially the clinical actionability. We analyzed the genomic aberrations, tumor mutation burden scores, and microsatellite instability status. The Molecular Tumor Board (MTB) individually recommended a therapeutic agent and suggested further confirmation of germline mutations after considering the results. The results of 65/104 patients with glioma who underwent CGPTs were reviewed by MTB. Among them, 12 (18.5%) could access at least one therapeutic agent, and 5 (7.7%) were suspected of germline mutations. A total of 49 patients with IDH-wildtype glioblastoma showed frequent genomic aberrations in the following genes: TERT promoter (67%), CDKN2A (57%), CDKN2B (51%), MTAP (41%), TP53 (35%), EGFR (31%), PTEN (31%), NF1 (18%), BRAF (12%), PDGFRA (12%), CDK4 (10%), and PIK3CA (10%). Since glioma patients currently have very limited standard treatment options and a high recurrence rate, CGPT might be a facilitative tool for glioma patients in terms of clinical actionability and diagnostic value.

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Publisher

MDPI AG,MDPI

Subject

/ Glioma