Molecular Genetic Profile of 300 Japanese Patients with Diffuse Gliomas Using a Glioma-tailored Gene Panel
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- HIGA Nayuta
- Department of Neurosurgery, Graduate School of Medical and Dental Sciences, Kagoshima University
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- AKAHANE Toshiaki
- Department of Pathology, Graduate School of Medical and Dental Sciences, Kagoshima University Center for Human Genome and Gene Analysis, Kagoshima University Hospital
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- YOKOYAMA Seiya
- Department of Pathology, Graduate School of Medical and Dental Sciences, Kagoshima University
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- YONEZAWA Hajime
- Department of Neurosurgery, Graduate School of Medical and Dental Sciences, Kagoshima University
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- UCHIDA Hiroyuki
- Department of Neurosurgery, Graduate School of Medical and Dental Sciences, Kagoshima University
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- FUJIO Shingo
- Department of Neurosurgery, Graduate School of Medical and Dental Sciences, Kagoshima University
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- KIRISHIMA Mari
- Department of Pathology, Graduate School of Medical and Dental Sciences, Kagoshima University
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- TAKIGAWA Kosuke
- Department of Neurosurgery, Graduate School of Medical Sciences, Kyushu University
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- HATA Nobuhiro
- Department of Neurosurgery, Graduate School of Medical Sciences, Kyushu University
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- TOH Keita
- Department of Neurosurgery, University of Occupational and Environmental Health
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- YAMAMOTO Junkoh
- Department of Neurosurgery, University of Occupational and Environmental Health
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- HANAYA Ryosuke
- Department of Neurosurgery, Graduate School of Medical and Dental Sciences, Kagoshima University
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- TANIMOTO Akihide
- Department of Pathology, Graduate School of Medical and Dental Sciences, Kagoshima University Center for Human Genome and Gene Analysis, Kagoshima University Hospital
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- YOSHIMOTO Koji
- Department of Neurosurgery, Graduate School of Medical and Dental Sciences, Kagoshima University Department of Neurosurgery, Graduate School of Medical Sciences, Kyushu University
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Description
<p>Rapid technological advances in molecular biology, including next-generation sequencing, have identified key genetic alterations in central nervous system (CNS) tumors. Accordingly, the fifth edition of the World Health Organization (WHO) CNS tumor classification was published in 2021. We analyzed 303 patients with diffuse glioma using an amplicon-based glioma-tailored gene panel for detecting 1p/19q codeletion and driver gene mutations such as IDH1/2, TERTp, EGFR, and CDKN2A/B on a single platform. Within glioblastomas (GBMs), the most commonly mutated genes were TERTp, TP53, PTEN, NF1, and PDGFRA, which was the most frequently mutated tyrosine kinase receptor in GBM, followed by EGFR. The genes that most commonly showed evidence of loss were PTEN, CDKN2A/B, and RB1, whereas the genes that most commonly showed evidence of gain/amplification were EGFR, PDGFRA, and CDK4. In 22 grade III oligodendroglial tumors, 3 (14%) patients had CDKN2A/B homozygous deletion, and 4 (18%) patients had ARID1A mutation. In grade III oligodendroglial tumors, an ARID1A mutation was associated with worse progression-free survival. Reclassification based on the WHO 2021 classification resulted in 62.5% of grade II/III isocitrate dehydrogenase (IDH) -wildtype astrocytomas being classified as IDH-wildtype GBM and 37.5% as not elsewhere classified. In summary, our glioma-tailored gene panel was applicable for molecular diagnosis in the WHO 2021 classification. In addition, we successfully reclassified the 303 diffuse glioma cases based on the WHO 2021 classification and clarified the genetic profile of diffuse gliomas in the Japanese population.</p>
Journal
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- Neurologia medico-chirurgica
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Neurologia medico-chirurgica 62 (9), 391-399, 2022-09-15
The Japan Neurosurgical Society