Molecular and clinical features of a Japanese medulloblastoma cohort: Subgroup-specific prognostic stratification using economical/accessible diagnostic methods.

A correction to this paper has been published: the notice, 42768843, from Europe PMC.

Overview

Authors: Kohichi Go¹, Asako Katsuma², Ema Yoshioka², Tomoko Shofuda², Kohei Fukuoka³, Koichi Ichimura⁴, Yuko Matsushita⁴, Yohei Mineharu¹, Yasuhide Makino¹, Takeshi Kawauchi¹, Atsushi Sasaki⁵, Junko Hirato⁶, Takeshi Inoue⁷, Yoshinori Kodama^8,9, Masayuki Mano⁸, Daisuke Kanematsu², Noriyuki Kijima¹⁰, Naoki Kagawa^10,11, Dai Keino¹², Akitake Mukasa¹³

and 51 other authors

Tomonari Suzuki¹⁴, Koji Yoshimoto¹⁵, Daisuke Kuga¹⁵, Keishi Horiguchi¹⁶, Shigeru Yamaguchi¹⁷, Masayuki Kanamori¹⁸, Kai Yamasaki¹⁹, Kenichi Ishibashi²⁰, Takuya Akai²¹, Masayoshi Yamaoka²², Ryuji Ishizaki²³, Atsufumi Kawamura²⁴, Shigeo Ohba²⁵, Joji Ishida²⁶, Ryo Ando²⁷, Junya Fukai²⁸, Tomoru Miwa²⁹, Masazumi Fujii³⁰, Ai Muroi³¹, Kuniaki Saito³², Atsuko Harada³³, Yasuhiko Hayashi³⁴, Masahiro Nonaka³⁵, Young‐Soo Park³⁶, Yusuke Kobayashi³⁷, Tadashi Higuchi³⁸, Yosuke Miyairi³⁹, Kazuhisa Yoshifuji⁴⁰, Noriyoshi Takebe⁴¹, Soichi Oya⁴², Kosuke Nakajo⁴³, Mitsutoshi Nakada⁴⁴, Yoshiteru Nakano⁴⁵, Mizuki Kambara⁴⁶, Koji Adachi⁴⁷, Kazuhiro Tanaka⁴⁸, Hideo Nakamura⁴⁹, Yukihiko Sonoda⁵⁰, Ryuta Saito⁵¹, Takafumi Wataya⁵², Kazuhiko Kurozumi⁵³, Michael D Taylor^{54,55,56,57,58,59,60,61,62}, Yoshitaka Narita⁶³, Soichiro Shibui⁶⁴, Hajime Arai⁶⁵, Hiroaki Sakamoto^43,66, Isao Date²⁶, Motoo Nagane³², Ryo Nishikawa¹⁴, Yoshiki Arakawa¹, Yonehiro Kanemura^2,67

ORCID iDs: Kohichi Go, Asako Katsuma, Kohei Fukuoka, Yohei Mineharu, Yasuhide Makino, Yoshinori Kodama, Dai Keino, Tomonari Suzuki, Kai Yamasaki, Atsuko Harada, Ryuta Saito, Takafumi Wataya, Yonehiro Kanemura

67 affiliations

Journal: Brain pathology (Zurich, Switzerland), volume 36, issue 5, article e70092

Dates: received 23 October 2025; accepted 26 February 2026; published online 11 March 2026; in print September 2026

Type: Research article · Language: English

License: CC BY

Identifiers: DOI 10.1111/bpa.70092 · PMID 41808532 · PMCID PMC13429296 · OpenAlex W7134925918

Open access: gold, a free copy (OpenAlex)

Status: data only

Categories: genetics / omics (modality), human (organism), other condition (population)

Methods: Statistics, Connectivity

Keywords: medulloblastoma, methylation analysis, molecular diagnosis, multiplex ligation‐dependent probe amplification, risk stratification

MeSH: Cerebellar Neoplasms*, Medulloblastoma*, Adolescent, Biomarkers, Tumor, Child, Child, Preschool, Cohort Studies, DNA Methylation, East Asian People, Female, Gene Expression Profiling, Humans, Infant, Japan, Male, Mutation, Prognosis (* major topic)

Topic: Glioma Diagnosis and Treatment (Genetics, Medicine), according to OpenAlex

Funding: Japan Agency for Medical Research and Development (AMED) (JP19ck0106330); Japan Agency for Medical Research and Development (JP19ck0106330)

Citations: not cited yet (Europe PMC); 53 references in the paper

Notices: A correction to this paper has been published (42768843, from Europe PMC)

Abstract

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.

Reproduced under the paper's license (CC BY), from the paper cited above.

Code

The paper links to its data, not to its authors' code: see the Data section.

Tracing map

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Data

Datasets cited

geo:GSE313522, at NCBI GEO; found in “DATA AVAILABILITY STATEMENT”

Data availability statement

The raw DNA methylation array data (IDAT files) generated in this study were deposited in the NCBI Gene Expression Omnibus (GEO) under the accession number GSE313522 (https://www.ncbi.nlm.nih.gov/geo/query/acc.cgi?acc=GSE313522). In contrast, the clinical datasets and other individual‐level molecular data generated and analyzed in the current study are not publicly available due to ethical restrictions and concerns regarding patient privacy.

Reproduced under the paper's license (CC BY), from the paper cited above.

Versions

The history of this record: each version stored by the harvester or made by a correction of its authors or of the maintainers of its code, and what changed in its facts. The texts of the paper (its abstract, its availability statements) are not part of it; versions that changed only those are not listed.

Version 1, 30 September 2026: the first record

Recorded: type, language, journal, volume, issue, pages, dates, 71 authors, 5 keywords, 17 MeSH terms, 2 funders, 51 references, 1 integrity notice.

Cite

This paper

Go, K., Katsuma, A., Yoshioka, E., Shofuda, T., Fukuoka, K., Ichimura, K., Matsushita, Y., Mineharu, Y., Makino, Y., Kawauchi, T., Sasaki, A., Hirato, J., Inoue, T., Kodama, Y., Mano, M., Kanematsu, D., Kijima, N., Kagawa, N., Keino, D., . . . Kanemura, Y. (2026). Molecular and clinical features of a Japanese medulloblastoma cohort: Subgroup-specific prognostic stratification using economical/accessible diagnostic methods. Brain pathology (Zurich, Switzerland), 36(5), e70092. https://doi.org/10.1111/bpa.70092

BibTeX

@article{go2026molecular, author = {Go, Kohichi and Katsuma, Asako and Yoshioka, Ema and Shofuda, Tomoko and Fukuoka, Kohei and Ichimura, Koichi and Matsushita, Yuko and Mineharu, Yohei and Makino, Yasuhide and Kawauchi, Takeshi and Sasaki, Atsushi and Hirato, Junko and Inoue, Takeshi and Kodama, Yoshinori and Mano, Masayuki and Kanematsu, Daisuke and Kijima, Noriyuki and Kagawa, Naoki and Keino, Dai and Mukasa, Akitake and Suzuki, Tomonari and Yoshimoto, Koji and Kuga, Daisuke and Horiguchi, Keishi and Yamaguchi, Shigeru and Kanamori, Masayuki and Yamasaki, Kai and Ishibashi, Kenichi and Akai, Takuya and Yamaoka, Masayoshi and Ishizaki, Ryuji and Kawamura, Atsufumi and Ohba, Shigeo and Ishida, Joji and Ando, Ryo and Fukai, Junya and Miwa, Tomoru and Fujii, Masazumi and Muroi, Ai and Saito, Kuniaki and Harada, Atsuko and Hayashi, Yasuhiko and Nonaka, Masahiro and Park, Young‐Soo and Kobayashi, Yusuke and Higuchi, Tadashi and Miyairi, Yosuke and Yoshifuji, Kazuhisa and Takebe, Noriyoshi and Oya, Soichi and Nakajo, Kosuke and Nakada, Mitsutoshi and Nakano, Yoshiteru and Kambara, Mizuki and Adachi, Koji and Tanaka, Kazuhiro and Nakamura, Hideo and Sonoda, Yukihiko and Saito, Ryuta and Wataya, Takafumi and Kurozumi, Kazuhiko and Taylor, Michael D and Narita, Yoshitaka and Shibui, Soichiro and Arai, Hajime and Sakamoto, Hiroaki and Date, Isao and Nagane, Motoo and Nishikawa, Ryo and Arakawa, Yoshiki and Kanemura, Yonehiro}, title = {{Molecular and clinical features of a Japanese medulloblastoma cohort: Subgroup-specific prognostic stratification using economical/accessible diagnostic methods}}, journal = {Brain pathology (Zurich, Switzerland)}, year = {2026}, month = mar, volume = {36}, number = {5}, pages = {e70092}, publisher = {Wiley}, issn = {1015-6305}, doi = {10.1111/bpa.70092}, url = {https://doi.org/10.1111/bpa.70092}, pmid = {41808532}, pmcid = {PMC13429296} }

RIS

TY - JOUR AU - Go, Kohichi AU - Katsuma, Asako AU - Yoshioka, Ema AU - Shofuda, Tomoko AU - Fukuoka, Kohei AU - Ichimura, Koichi AU - Matsushita, Yuko AU - Mineharu, Yohei AU - Makino, Yasuhide AU - Kawauchi, Takeshi AU - Sasaki, Atsushi AU - Hirato, Junko AU - Inoue, Takeshi AU - Kodama, Yoshinori AU - Mano, Masayuki AU - Kanematsu, Daisuke AU - Kijima, Noriyuki AU - Kagawa, Naoki AU - Keino, Dai AU - Mukasa, Akitake AU - Suzuki, Tomonari AU - Yoshimoto, Koji AU - Kuga, Daisuke AU - Horiguchi, Keishi AU - Yamaguchi, Shigeru AU - Kanamori, Masayuki AU - Yamasaki, Kai AU - Ishibashi, Kenichi AU - Akai, Takuya AU - Yamaoka, Masayoshi AU - Ishizaki, Ryuji AU - Kawamura, Atsufumi AU - Ohba, Shigeo AU - Ishida, Joji AU - Ando, Ryo AU - Fukai, Junya AU - Miwa, Tomoru AU - Fujii, Masazumi AU - Muroi, Ai AU - Saito, Kuniaki AU - Harada, Atsuko AU - Hayashi, Yasuhiko AU - Nonaka, Masahiro AU - Park, Young‐Soo AU - Kobayashi, Yusuke AU - Higuchi, Tadashi AU - Miyairi, Yosuke AU - Yoshifuji, Kazuhisa AU - Takebe, Noriyoshi AU - Oya, Soichi AU - Nakajo, Kosuke AU - Nakada, Mitsutoshi AU - Nakano, Yoshiteru AU - Kambara, Mizuki AU - Adachi, Koji AU - Tanaka, Kazuhiro AU - Nakamura, Hideo AU - Sonoda, Yukihiko AU - Saito, Ryuta AU - Wataya, Takafumi AU - Kurozumi, Kazuhiko AU - Taylor, Michael D AU - Narita, Yoshitaka AU - Shibui, Soichiro AU - Arai, Hajime AU - Sakamoto, Hiroaki AU - Date, Isao AU - Nagane, Motoo AU - Nishikawa, Ryo AU - Arakawa, Yoshiki AU - Kanemura, Yonehiro TI - Molecular and clinical features of a Japanese medulloblastoma cohort: Subgroup-specific prognostic stratification using economical/accessible diagnostic methods T2 - Brain pathology (Zurich, Switzerland) J2 - Brain Pathol PY - 2026 DA - 2026/03/11 VL - 36 IS - 5 SP - e70092 SN - 1015-6305 PB - Wiley DO - 10.1111/bpa.70092 UR - https://doi.org/10.1111/bpa.70092 LA - en ER -

CSL-JSON

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