TY - JOUR
T1 - All-in-one bimodal DNA and RNA next-generation sequencing panel for integrative diagnosis of glioma
AU - Higa, Nayuta
AU - Akahane, Toshiaki
AU - Kirishima, Mari
AU - Yonezawa, Hajime
AU - Makino, Ryutaro
AU - Uchida, Hiroyuki
AU - Yokoyama, Seiya
AU - Takajo, Tomoko
AU - Otsuji, Ryosuke
AU - Fujioka, Yutaka
AU - Sangatsuda, Yuhei
AU - Kuga, Daisuke
AU - Yamahata, Hitoshi
AU - Hata, Nobuhiro
AU - Horie, Nobutaka
AU - Kurosaki, Masamichi
AU - Yamamoto, Junkoh
AU - Yoshimoto, Koji
AU - Tanimoto, Akihide
AU - Hanaya, Ryosuke
N1 - Publisher Copyright:
Copyright © 2024 The Authors. Published by Elsevier GmbH.. All rights reserved.
PY - 2024/11/1
Y1 - 2024/11/1
N2 - Previously, we constructed a DNA-based next-generation sequencing (NGS) panel for an integrated diagnosis of gliomas according to the 2021 World Health Organization classification system. The aim of the current study was to evaluate the feasibility of a modified panel to include fusion gene detection via RNA-based analysis. Using this bimodal DNA/RNA panel, we analyzed 210 cases of gliomas and others to identify fusion genes in addition to gene alterations, including TERT promoter (TERTp) mutation and 1p/19q co-deletion, in formalin-fixed paraffin-embedded tissues. Of the 210 patients, fusion genes were detected in tumors of 35 patients. Eighteen of 112 glioblastomas (GBs) harbored fusion genes, including EGFR and FGFR3 fusions. In IDH-mutant astrocytoma, 6 of 30 cases showed fusion genes such as MET and NTRK2 fusions. Eleven molecular GBs and 20 not-elsewhere-classified cases harbored no gene fusions. Other 11 tumors including ependymoma, pilocytic astrocytoma, diffuse hemispheric glioma, infant-type hemispheric glioma, and solitary fibrous tumors exhibited diagnostic fusion genes. Overall, our results suggest that the all-in-one bimodal DNA/RNA panel is reliable for detecting diagnostic gene alterations in accordance with the latest WHO classification. The integrative pathological and molecular strategy could be valuable in confirmation of diagnosis and selection of treatment options for brain tumors.
AB - Previously, we constructed a DNA-based next-generation sequencing (NGS) panel for an integrated diagnosis of gliomas according to the 2021 World Health Organization classification system. The aim of the current study was to evaluate the feasibility of a modified panel to include fusion gene detection via RNA-based analysis. Using this bimodal DNA/RNA panel, we analyzed 210 cases of gliomas and others to identify fusion genes in addition to gene alterations, including TERT promoter (TERTp) mutation and 1p/19q co-deletion, in formalin-fixed paraffin-embedded tissues. Of the 210 patients, fusion genes were detected in tumors of 35 patients. Eighteen of 112 glioblastomas (GBs) harbored fusion genes, including EGFR and FGFR3 fusions. In IDH-mutant astrocytoma, 6 of 30 cases showed fusion genes such as MET and NTRK2 fusions. Eleven molecular GBs and 20 not-elsewhere-classified cases harbored no gene fusions. Other 11 tumors including ependymoma, pilocytic astrocytoma, diffuse hemispheric glioma, infant-type hemispheric glioma, and solitary fibrous tumors exhibited diagnostic fusion genes. Overall, our results suggest that the all-in-one bimodal DNA/RNA panel is reliable for detecting diagnostic gene alterations in accordance with the latest WHO classification. The integrative pathological and molecular strategy could be valuable in confirmation of diagnosis and selection of treatment options for brain tumors.
KW - Bimodal DNA/RNA panel
KW - Fusion gene
KW - Glioma
KW - Integrative diagnosis
KW - NGS
UR - http://www.scopus.com/inward/record.url?scp=85208772009&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=85208772009&partnerID=8YFLogxK
U2 - 10.1016/j.prp.2024.155598
DO - 10.1016/j.prp.2024.155598
M3 - Article
C2 - 39357189
AN - SCOPUS:85208772009
SN - 0344-0338
VL - 263
SP - 155598
JO - Pathology, research and practice
JF - Pathology, research and practice
ER -