A Nationwide Central Diagnosis for Pediatric CNS Tumors in Japan: The JCCG Brain Tumor and Pathology Committees

In 2016, the Japan Children's Cancer Group launched a nationwide research initiative to provide central diagnosis incorporating pathology review and molecular profiling for pediatric central nervous system (CNS) tumors. Over the first eight years, 2224 cases were registered. Non-next-generation sequencing analyzes, such as pyrosequencing and NanoString, were routinely performed, mainly for glioma, medulloblastoma, and ependymoma. Additional analyzes, including methylation profiling and RNA sequencing, were conducted for selected diagnostically challenging cases. The most common diagnoses were low-grade glioma (26%), medulloblastoma (18%), germ cell tumor (16%), high-grade glioma (12%), and ependymoma (11%). Diagnostic or targetable alterations were detected in nearly half of the glioma samples. Among medulloblastomas, Group 4 was the most prevalent subgroup (48%), followed by SHH-activated (28%), Group 3 (14%), and WNT-activated (11%). Among ependymomas, 95% of posterior fossa ependymomas were classified as PFA, and 72% of supratentorial ependymomas were positive for ZFTA fusion. Methylation-based classification enabled diagnostic refinement and identification of recently recognized novel subtypes. The integration of histopathological review by central pathologists and detailed molecular analyzes facilitated the recognition of rare tumors not yet defined in the World Health Organization classification. Our experience underscores the value of integrated diagnosis, which is now regarded as standard practice for pediatric CNS tumors, and highlights the urgent need for a sustainable clinical framework that incorporates molecular testing. This report represents the first comprehensive overview of the pediatric CNS tumor landscape in Japan in the molecular era.

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Publication Details

Journal
Cancer Science
Published
2026-04-25
DOI
https://doi.org/10.1111/cas.70392
Primary Topic
Glioma Diagnosis and Treatment
Type
article
Field-Weighted Citation Impact
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A Nationwide Central Diagnosis for Pediatric CNS Tumors in Japan: The JCCG Brain Tumor and Pathology Committees

Takako Yoshioka, Ran Tomomasa, Shoh Sasaki, Yonehiro Kanemura et al.
Cancer Science
Glioma Diagnosis and Treatment
article

A Nationwide Central Diagnosis for Pediatric CNS Tumors in Japan: The JCCG Brain Tumor and Pathology Committees

Takako Yoshioka, Ran Tomomasa, Shoh Sasaki, Yonehiro Kanemura, Yuko Matsushita, Yasuhito Arai, Junko Hirato, Keita Terashima, Asako Katsuma, Akira Miyahira, Kai Yamasaki, Yasuhide Takeuchi, Tomoko Shofuda, Sumihito Nobusawa, Tatsuhiro Shibata, Yuko Hibiya, Ayako Yamazaki, Taku Homma, Yoshiko Nakano, Nei Fukazawa, Kohei Fukuoka, Hayato Fukusumi, Koichi Ichimura, Miho Kato, Seiji Yamada, Michael D. Taylor, Toshihiro Kumabe, Junichi Hara, Yohei Inoue, Yui Shinohara Kimura, Ema Yoshioka, Hiroaki Sakamoto, Yuki Nagayama, Maki Sakaguchi, Tetsuya Takimoto, Yuki Yomoda, Kaishi Satomi, Yoshiki Arakawa, Mai Honda Kitahara, Ryo Nishikawa
article en

Abstract

In 2016, the Japan Children's Cancer Group launched a nationwide research initiative to provide central diagnosis incorporating pathology review and molecular profiling for pediatric central nervous system (CNS) tumors. Over the first eight years, 2224 cases were registered. Non-next-generation sequencing analyzes, such as pyrosequencing and NanoString, were routinely performed, mainly for glioma, medulloblastoma, and ependymoma. Additional analyzes, including methylation profiling and RNA sequencing, were conducted for selected diagnostically challenging cases. The most common diagnoses were low-grade glioma (26%), medulloblastoma (18%), germ cell tumor (16%), high-grade glioma (12%), and ependymoma (11%). Diagnostic or targetable alterations were detected in nearly half of the glioma samples. Among medulloblastomas, Group 4 was the most prevalent subgroup (48%), followed by SHH-activated (28%), Group 3 (14%), and WNT-activated (11%). Among ependymomas, 95% of posterior fossa ependymomas were classified as PFA, and 72% of supratentorial ependymomas were positive for ZFTA fusion. Methylation-based classification enabled diagnostic refinement and identification of recently recognized novel subtypes. The integration of histopathological review by central pathologists and detailed molecular analyzes facilitated the recognition of rare tumors not yet defined in the World Health Organization classification. Our experience underscores the value of integrated diagnosis, which is now regarded as standard practice for pediatric CNS tumors, and highlights the urgent need for a sustainable clinical framework that incorporates molecular testing. This report represents the first comprehensive overview of the pediatric CNS tumor landscape in Japan in the molecular era.

Cancer Science
Jikei University School of Medicine (JP), National Archives and Records Administration (US), Fujita Health University (JP), Tokyo Medical University (JP), Okayama University (JP), Gunma University (JP), Baylor College of Medicine (US), Kyorin University (JP), Kyoto University (JP), Juntendo University (JP), Osaka National Hospital (JP), Kohno Clinical Medicine Research Institute (JP), Saitama Children's Medical Center (JP), Osaka City General Hospital (JP), Institute of Medicinal Molecular Design (JP), Gunma Museum of Natural History (JP), National Center For Child Health and Development (JP), Nerima General Hospital (JP), National Cancer Center Hospital East (JP), Texas Children's Hospital (US), Kyoto University Hospital (JP), Children's Cancer Center (US), Nagasaki University (JP), Kitasato University (JP), Nara Medical University (JP), Tokyo Metropolitan University (JP), The University of Tokyo (JP), Saitama Medical University (JP)
Japan Agency for Medical Research and Development, Japan Society for the Promotion of Science
Openalex Percentile: Top 11%
Glioma Diagnosis and Treatment
DOIOpen Access PDFOpenAlex
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