ID | 65502 |
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Author |
Makino, Keigo
Department of Neurological Surgery, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences
Otani, Yoshihiro
Department of Neurological Surgery, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences
Fujii, Kentaro
Department of Neurological Surgery, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences
Ishida, Joji
Department of Neurological Surgery, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences
Hirano, Shuichiro
Department of Neurological Surgery, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences
Suruga, Yasuki
Department of Neurological Surgery, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences
Washio, Kana
Departments of Pediatrics, Okayama University Hospital
Nishida, Kenji
Departments of Pathology, Okayama University Hospital
Tomida, Shuta
Center for Comprehensive Genomic Medicine, Okayama University Hospital
Kaken ID
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Ennishi, Daisuke
Center for Comprehensive Genomic Medicine, Okayama University Hospital
Date, Isao
Department of Neurological Surgery, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences
ORCID
Kaken ID
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Abstract | In the current World Health Organization classification of central nervous system tumors, comprehensive genetic and epigenetic analyses are considered essential for precise diagnosis. A 14-year-old male patient who presented with a cerebellar tumor was initially diagnosed with glioblastoma and treated with radiation and concomitant temozolomide chemotherapy after resection. During maintenance temozolomide therapy, a new contrast-enhanced lesion developed in the bottom of the cavity formed by the resection. A second surgery was performed, but the histological findings in specimens from the second surgery were different from those of the first surgery. Although genome-wide DNA methylation profiling was conducted using frozen tissue for a precise diagnosis, the proportion of tumor cells was insufficient and only normal cerebellum was observed. We then performed comprehensive genetic analysis using formalin-fixed paraffin-embedded sections, which revealed MYCN amplification without alteration of IDH1, IDH2, or Histone H3. Finally, the patient was diagnosed with pediatric-type diffuse high-grade glioma, H3-wildtype and IDH-wildtype. In conclusion, comprehensive genetic and epigenetic analysis should be considered in pediatric brain tumor cases.
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Keywords | comprehensive genomic profiling
pediatric brain tumor
genome-wide DNA methylation
MYCN
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Amo Type | Case Report
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Publication Title |
Acta Medica Okayama
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Published Date | 2023-06
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Volume | volume77
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Issue | issue3
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Publisher | Okayama University Medical School
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Start Page | 323
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End Page | 330
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ISSN | 0386-300X
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NCID | AA00508441
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Content Type |
Journal Article
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language |
English
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Copyright Holders | Copyright Ⓒ 2023 by Okayama University Medical School
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File Version | publisher
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Refereed |
True
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