A practical targeted molecular workflow resolves the World Health Organization 2021 integrated diagnosis of diffuse gliomas

Clicks: 4
ID: 337938
2026
Free PDF
Article Quality & Performance Metrics
Overall Quality
Not rated
Combines reader engagement with the AI quality analysis. This article has not been analysed, so there is no overall score — reader engagement is measured and shown alongside.
AI Quality Assessment
Not analyzed
Readership in this journal
Emerging

Ranked #53 of 54 articles by views in Journal of Neuropathology & Experimental Neurology

Most read Least read

Bar heights use a square-root scale.

Mint this article as an NFT
Not yet minted

Create a permanent, verifiable on-chain record of this article on the Scimatic Network. The NFT is held in your Journament account, and you can withdraw it to your own wallet at any time.

5 SUSD one-off · no wallet required
Sign in to mint
Abstract
The 2021 World Health Organization (WHO) Classification of Tumors of the Central Nervous System requires molecular alterations for the integrated diagnosis of diffuse gliomas but the necessity of comprehensive genomic profiling in routine practice remains uncertain. We retrospectively evaluated a practical molecular diagnostic workflow using Sanger sequencing and multiplex ligation-dependent probe amplification (MLPA) in 307 consecutive diffuse gliomas diagnosed between March 2019 and January 2025. Histopathological diagnoses were established independently by 2 board-certified neuropathologists and compared with the final WHO 2021 integrated diagnoses. Targeted molecular testing identified diagnostically relevant mutations and copy-number alterations. Integrated diagnoses were established in 288 of 307 tumors (93.8%), leaving only 19 cases (6.2%) unresolved. Molecular findings changed the histopathological diagnosis in 60 tumors (19.5%), whereas 247 tumors (80.5%) showed concordant histopathological and integrated diagnoses. Reclassification most frequently involved molecular glioblastoma, H3K27-altered diffuse glioma, oligodendroglioma defined by whole-arm 1p/19q codeletion, astrocytoma upgraded to WHO grade 4 based on CDKN2A/B homozygous deletion, and diffuse hemispheric glioma, H3 G34-mutant. These results demonstrate that a workflow combining Sanger sequencing and MLPA provides a practical approach for establishing WHO 2021 integrated diagnoses in most diffuse gliomas, with only a small subset requiring additional molecular characterization.
Reference Key
openalex_W7224881183 Use this key to autocite in the manuscript while using SciMatic Manuscript Manager or Thesis Manager
Authors Yoshiki Shiba, Kosuke Aoki, Fumiharu Ohka, Sachi Maeda, Shoichi Deguchi, Akira Satou, Masafumi Seki, Keisuke Kimura, Yuhei Takido, S Nawa, Yuta Koketsu, Kazuya Motomura, Kennosuke Karube, Ryuta Saito
Are you one of these authors? Claim your profile
Journal Journal of Neuropathology & Experimental Neurology
Year 2026
DOI
10.1093/jnen/nlag117
URL
https://doi.org/10.1093/jnen/nlag117
Keywords Keywords not found

Citations

No citations found. To add a citation, contact the admin at info@scimatic.org

Comments

No comments yet. Be the first to comment on this article.