{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,11]],"date-time":"2025-10-11T00:33:55Z","timestamp":1760142835913,"version":"build-2065373602"},"reference-count":37,"publisher":"MDPI AG","issue":"1","license":[{"start":{"date-parts":[[2024,1,4]],"date-time":"2024-01-04T00:00:00Z","timestamp":1704326400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Hong Kong Children Cancer Foundation","award":["PR-HKU-6","20QA1401900","82072020","20Z1900100","2018SHZDZX01"],"award-info":[{"award-number":["PR-HKU-6","20QA1401900","82072020","20Z1900100","2018SHZDZX01"]}]},{"DOI":"10.13039\/501100005847","name":"Health and Medical Research Fund","doi-asserted-by":"publisher","award":["PR-HKU-6","20QA1401900","82072020","20Z1900100","2018SHZDZX01"],"award-info":[{"award-number":["PR-HKU-6","20QA1401900","82072020","20Z1900100","2018SHZDZX01"]}],"id":[{"id":"10.13039\/501100005847","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Food and Health Bureau, Hong Kong Government","award":["PR-HKU-6","20QA1401900","82072020","20Z1900100","2018SHZDZX01"],"award-info":[{"award-number":["PR-HKU-6","20QA1401900","82072020","20Z1900100","2018SHZDZX01"]}]},{"name":"Shanghai Science and Technology Committee Rising-Star Program","award":["PR-HKU-6","20QA1401900","82072020","20Z1900100","2018SHZDZX01"],"award-info":[{"award-number":["PR-HKU-6","20QA1401900","82072020","20Z1900100","2018SHZDZX01"]}]},{"name":"National Natural Science Foundation of China","award":["PR-HKU-6","20QA1401900","82072020","20Z1900100","2018SHZDZX01"],"award-info":[{"award-number":["PR-HKU-6","20QA1401900","82072020","20Z1900100","2018SHZDZX01"]}]},{"name":"Science and Technology Commission of Shanghai Municipality","award":["PR-HKU-6","20QA1401900","82072020","20Z1900100","2018SHZDZX01"],"award-info":[{"award-number":["PR-HKU-6","20QA1401900","82072020","20Z1900100","2018SHZDZX01"]}]},{"name":"Shanghai Municipal Science and Technology Major Project","award":["PR-HKU-6","20QA1401900","82072020","20Z1900100","2018SHZDZX01"],"award-info":[{"award-number":["PR-HKU-6","20QA1401900","82072020","20Z1900100","2018SHZDZX01"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Cancers"],"abstract":"<jats:p>Pediatric high-grade gliomas (HGG) of the cerebellum are rare, and only a few cases have been documented in detail in the literature. A major differential diagnosis for poorly differentiated tumors in the cerebellum in children is medulloblastoma. In this study, we described the histological and molecular features of a series of five pediatric high-grade gliomas of the cerebellum. They actually showed histological and immunohistochemical features that overlapped with those of medulloblastomas and achieved high scores in NanoString-based medulloblastoma diagnostic assay. Methylation profiling demonstrated these tumors were heterogeneous epigenetically, clustering to GBM_MID, DMG_K27, and GBM_RTKIII methylation classes. MYCN amplification was present in one case, and PDGFRA amplification in another two cases. Interestingly, target sequencing showed that all tumors carried TP53 mutations. Our results highlight that pediatric high-grade gliomas of the cerebellum can mimic medulloblastomas at histological and transcriptomic levels. Our report adds to the rare number of cases in the literature of cerebellar HGGs in children. We recommend the use of both methylation array and TP53 screening in the differential diagnoses of poorly differentiated embryonal-like tumors of the cerebellum.<\/jats:p>","DOI":"10.3390\/cancers16010232","type":"journal-article","created":{"date-parts":[[2024,1,4]],"date-time":"2024-01-04T09:47:32Z","timestamp":1704361652000},"page":"232","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Rare Pediatric Cerebellar High-Grade Gliomas Mimic Medulloblastomas Histologically and Transcriptomically and Show p53 Mutations"],"prefix":"10.3390","volume":"16","author":[{"given":"Zhi-Feng","family":"Shi","sequence":"first","affiliation":[{"name":"Department of Neurosurgery, Huashan Hospital, Fudan University, Shanghai 200040, China"},{"name":"Hong Kong and Shanghai Brain Consortium (HSBC), Hong Kong, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kay Ka-Wai","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Anatomical and Cellular Pathology, The Chinese University of Hong Kong, Hong Kong, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8597-9128","authenticated-orcid":false,"given":"Anthony Pak-Yin","family":"Liu","sequence":"additional","affiliation":[{"name":"Department of Paediatrics and Adolescent Medicine, The University of Hong Kong, Hong Kong, China"},{"name":"Department of Paediatrics and Adolescent Medicine, Hong Kong Children\u2019s Hospital, Hong Kong, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nellie Yuk-Fei","family":"Chung","sequence":"additional","affiliation":[{"name":"Department of Anatomical and Cellular Pathology, The Chinese University of Hong Kong, Hong Kong, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chit","family":"Chow","sequence":"additional","affiliation":[{"name":"Department of Anatomical and Cellular Pathology, The Chinese University of Hong Kong, Hong Kong, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hong","family":"Chen","sequence":"additional","affiliation":[{"name":"Department of Pathology, Huashan Hospital, Fudan University, Shanghai 200040, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nim-Chi Amanda","family":"Kan","sequence":"additional","affiliation":[{"name":"Department of Pathology, Hong Kong Children\u2019s Hospital, Hong Kong, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xian-Lun","family":"Zhu","sequence":"additional","affiliation":[{"name":"Division of Neurosurgery, Department of Surgery, The Chinese University of Hong Kong, Hong Kong, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Danny Tat-Ming","family":"Chan","sequence":"additional","affiliation":[{"name":"Division of Neurosurgery, Department of Surgery, The Chinese University of Hong Kong, Hong Kong, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8055-115X","authenticated-orcid":false,"given":"Ying","family":"Mao","sequence":"additional","affiliation":[{"name":"Department of Neurosurgery, Huashan Hospital, Fudan University, Shanghai 200040, China"},{"name":"Hong Kong and Shanghai Brain Consortium (HSBC), Hong Kong, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2614-2213","authenticated-orcid":false,"given":"Ho-Keung","family":"Ng","sequence":"additional","affiliation":[{"name":"Hong Kong and Shanghai Brain Consortium (HSBC), Hong Kong, China"},{"name":"Department of Anatomical and Cellular Pathology, The Chinese University of Hong Kong, Hong Kong, China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2024,1,4]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","unstructured":"Thorbinson, C., and Kilday, J.P. 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