論文種別	原著(症例報告除く)
言語種別	英語
査読の有無	その他(不明)
表題	Molecular and clinical features of a Japanese medulloblastoma cohort: Subgroup-specific prognostic stratification using economical/accessible diagnostic methods.
掲載誌名	正式名：Brain pathology (Zurich, Switzerland) 略　 称：Brain Pathol ISSNコード：17503639/10156305
掲載区分	国外
巻・号・頁	pp.e70092
著者・共著者	Kohichi Go, Asako Katsuma, Ema Yoshioka, Tomoko Shofuda, Kohei Fukuoka, Koichi Ichimura, Yuko Matsushita, Yohei Mineharu, Yasuhide Makino, Takeshi Kawauchi, Atsushi Sasaki, Junko Hirato, Takeshi Inoue, Yoshinori Kodama, Masayuki Mano, Daisuke Kanematsu, Noriyuki Kijima, Naoki Kagawa, Dai Keino, Akitake Mukasa, Tomonari Suzuki, Koji Yoshimoto, Daisuke Kuga, Keishi Horiguchi, Shigeru Yamaguchi, Masayuki Kanamori, Kai Yamasaki, Kenichi Ishibashi, Takuya Akai, Masayoshi Yamaoka, Ryuji Ishizaki, Atsufumi Kawamura, Shigeo Ohba, Joji Ishida, Ryo Ando, Junya Fukai, Tomoru Miwa, Masazumi Fujii, Ai Muroi, Kuniaki Saito, Atsuko Harada, Yasuhiko Hayashi, Masahiro Nonaka, et al.
発行年月	2026/03
概要	Medulloblastoma (MB) is a biologically and clinically heterogeneous pediatric brain tumor. However, large-scale molecular subgrouping studies have mainly been conducted in Western populations, and comprehensive data from Asia are limited. To address this gap, we analyzed 242 MB cases collected from 39 institutions through the Japan Pediatric Molecular Neuro-Oncology Group, performing centralized molecular classification using NanoString-based gene expression profiling, DNA methylation arrays, and multiplex ligation-dependent probe amplification (MLPA)-based copy number profiling, supplemented by targeted sequencing. The subgroup distribution was 16.1% WNT, 24.8% SHH, 17.4% Group 3, and 41.7% Group 4. CTNNB1 mutations and monosomy 6 characterized all WNT cases, whereas MYCN amplification and TP53 mutations were independent adverse markers in SHH MB. Group 3 showed the worst survival, with MYC amplification and metastasis as poor prognostic factors. In Group 4, large cell/anaplastic histology predicted poor outcomes, whereas chromosome 11 loss was correlated with a favorable prognosis. Whole chromosomal aberration-defined favorable-risk patterns consistently indicate improved outcomes in non-WNT/non-SHH MBs. We also developed a simplified MLPA-based classifier targeting six loci on chromosomes 7, 8, and 11 (SEE-6-CNA), which enabled robust and clinically feasible prognostic stratification. Overall, our findings confirm that the molecular subgroup-specific features of Japanese MBs are largely concordant with global observations and that SEE-6-CNA provides a cost-effective tool to support individualized treatment planning, particularly in resource-limited settings.
DOI	10.1111/bpa.70092
PMID	41808532