학술논문
Clinical Application of Comprehensive Genomic Profiling Tests for Diffuse Gliomas
Document Type
article
Author
Takaki Omura; Masamichi Takahashi; Makoto Ohno; Yasuji Miyakita; Shunsuke Yanagisawa; Yukie Tamura; Miyu Kikuchi; Daisuke Kawauchi; Tomoyuki Nakano; Tomohiro Hosoya; Hiroshi Igaki; Kaishi Satomi; Akihiko Yoshida; Kuniko Sunami; Makoto Hirata; Tatsunori Shimoi; Kazuki Sudo; Hitomi S. Okuma; Kan Yonemori; Hiromichi Suzuki; Koichi Ichimura; Yoshitaka Narita
Source
Cancers, Vol 14, Iss 10, p 2454 (2022)
Subject
Language
English
ISSN
2072-6694
Abstract
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.