Rare Pediatric Cerebellar High-Grade Gliomas Mimic Medulloblastomas Histologically and Transcriptomically and Show p53 Mutations
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 mol...
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MDPI AG
2024-01-01
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| Series: | Cancers |
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| Online Access: | https://www.mdpi.com/2072-6694/16/1/232 |
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| author | Zhi-Feng Shi Kay Ka-Wai Li Anthony Pak-Yin Liu Nellie Yuk-Fei Chung Chit Chow Hong Chen Nim-Chi Amanda Kan Xian-Lun Zhu Danny Tat-Ming Chan Ying Mao Ho-Keung Ng |
| author_facet | Zhi-Feng Shi Kay Ka-Wai Li Anthony Pak-Yin Liu Nellie Yuk-Fei Chung Chit Chow Hong Chen Nim-Chi Amanda Kan Xian-Lun Zhu Danny Tat-Ming Chan Ying Mao Ho-Keung Ng |
| author_sort | Zhi-Feng Shi |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-03-08T15:10:03Z |
| format | Article |
| id | doaj.art-10326b73299b47a7ae1933afa038a153 |
| institution | Directory Open Access Journal |
| issn | 2072-6694 |
| language | English |
| last_indexed | 2024-03-08T15:10:03Z |
| publishDate | 2024-01-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Cancers |
| spelling | doaj.art-10326b73299b47a7ae1933afa038a1532024-01-10T14:53:08ZengMDPI AGCancers2072-66942024-01-0116123210.3390/cancers16010232Rare Pediatric Cerebellar High-Grade Gliomas Mimic Medulloblastomas Histologically and Transcriptomically and Show p53 MutationsZhi-Feng Shi0Kay Ka-Wai Li1Anthony Pak-Yin Liu2Nellie Yuk-Fei Chung3Chit Chow4Hong Chen5Nim-Chi Amanda Kan6Xian-Lun Zhu7Danny Tat-Ming Chan8Ying Mao9Ho-Keung Ng10Department of Neurosurgery, Huashan Hospital, Fudan University, Shanghai 200040, ChinaDepartment of Anatomical and Cellular Pathology, The Chinese University of Hong Kong, Hong Kong, ChinaDepartment of Paediatrics and Adolescent Medicine, The University of Hong Kong, Hong Kong, ChinaDepartment of Anatomical and Cellular Pathology, The Chinese University of Hong Kong, Hong Kong, ChinaDepartment of Anatomical and Cellular Pathology, The Chinese University of Hong Kong, Hong Kong, ChinaDepartment of Pathology, Huashan Hospital, Fudan University, Shanghai 200040, ChinaDepartment of Pathology, Hong Kong Children’s Hospital, Hong Kong, ChinaDivision of Neurosurgery, Department of Surgery, The Chinese University of Hong Kong, Hong Kong, ChinaDivision of Neurosurgery, Department of Surgery, The Chinese University of Hong Kong, Hong Kong, ChinaDepartment of Neurosurgery, Huashan Hospital, Fudan University, Shanghai 200040, ChinaHong Kong and Shanghai Brain Consortium (HSBC), Hong Kong, ChinaPediatric 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.https://www.mdpi.com/2072-6694/16/1/232childrenhigh-grade gliomasp53PDGFRAMYCN |
| spellingShingle | Zhi-Feng Shi Kay Ka-Wai Li Anthony Pak-Yin Liu Nellie Yuk-Fei Chung Chit Chow Hong Chen Nim-Chi Amanda Kan Xian-Lun Zhu Danny Tat-Ming Chan Ying Mao Ho-Keung Ng Rare Pediatric Cerebellar High-Grade Gliomas Mimic Medulloblastomas Histologically and Transcriptomically and Show p53 Mutations Cancers children high-grade gliomas p53 PDGFRA MYCN |
| title | Rare Pediatric Cerebellar High-Grade Gliomas Mimic Medulloblastomas Histologically and Transcriptomically and Show p53 Mutations |
| title_full | Rare Pediatric Cerebellar High-Grade Gliomas Mimic Medulloblastomas Histologically and Transcriptomically and Show p53 Mutations |
| title_fullStr | Rare Pediatric Cerebellar High-Grade Gliomas Mimic Medulloblastomas Histologically and Transcriptomically and Show p53 Mutations |
| title_full_unstemmed | Rare Pediatric Cerebellar High-Grade Gliomas Mimic Medulloblastomas Histologically and Transcriptomically and Show p53 Mutations |
| title_short | Rare Pediatric Cerebellar High-Grade Gliomas Mimic Medulloblastomas Histologically and Transcriptomically and Show p53 Mutations |
| title_sort | rare pediatric cerebellar high grade gliomas mimic medulloblastomas histologically and transcriptomically and show p53 mutations |
| topic | children high-grade gliomas p53 PDGFRA MYCN |
| url | https://www.mdpi.com/2072-6694/16/1/232 |
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