Genomic Alteration Patterns Across Histological Grades in <i>BRAF</i> p.V600E‐Mutant Gliomas and Glioneuronal Tumors: An Analysis of 15 Cases
BRAF p.V600E-mutant gliomas and glioneuronal tumors comprise a wide clinicopathological spectrum, yet the relationship between genomic alteration burden and histological grade remains incompletely defined. We analyzed 15 BRAF p.V600E-mutant gliomas and glioneuronal tumors across histological grades using the PleSSision Rapid sequencing platform. Single-nucleotide variants (SNVs) and copy-number alterations were assessed in parallel to characterize genomic alteration profiles. Low-grade tumors generally exhibited limited genomic alterations; however, a subset of low-grade tumors showed increased numbers of SNVs. High-grade tumors demonstrated more extensive genomic alterations, characterized predominantly by copy-number gains. A trend toward increased copy-number gains with higher WHO grade was observed. Homozygous deletion of CDKN2A was observed in pleomorphic xanthoastrocytoma, including both CNS WHO grade 2 and grade 3 tumors, and epithelioid glioblastoma. These findings indicate substantial genomic heterogeneity among BRAF p.V600E-mutant gliomas and glioneuronal tumors. While low-grade tumors are generally genomically quiet, a subset shows increased alterations, and high-grade tumors tend to acquire copy-number changes, highlighting the limitations of genomic event counts alone as a surrogate for malignant potential.
Authors
- Mina Ikeda
- Ryuta Saito (ORCID: https://orcid.org/0000-0002-2484-1360)
- Kosuke Aoki
- Junya Yamaguchi (ORCID: https://orcid.org/0000-0002-4344-5750)
- Kazuya Motomura (ORCID: https://orcid.org/0000-0002-4376-1104)
- Shoichi Deguchi (ORCID: https://orcid.org/0000-0003-2424-2314)
- Sachiko Minamiguchi (ORCID: https://orcid.org/0000-0002-5800-6769)
- Seiji Yamada (ORCID: https://orcid.org/0000-0002-9770-2425)
- Tetsuya Takimoto (ORCID: https://orcid.org/0009-0009-3008-8078)
- Kennosuke Karube
- Mayu Takeda
- Eiji Sugihara
- Shigeo Ohba
- Fumiharu Ohka
- Hideyuki Saya
- Yuichi Hirose
Institutions
- Fujita Health University (JP)
- Shizuoka Cancer Center (JP)
- Nagoya University Hospital (JP)
- Nagoya University (JP)
- Aichi Shukutoku University (JP)
Publication Details
- Journal
- Pathology International
- Published
- 2026-04-01
- DOI
- https://doi.org/10.1111/pin.70113
- Primary Topic
- Glioma Diagnosis and Treatment
- Type
- article
- Field-Weighted Citation Impact
- 0.00