Clinical and Molecular Features in Medulloblastomas Subtypes in Children in a Cohort in Taiwan

Kuo Sheng Wu, Shian-Ying Sung, Man Hsu Huang, Yu Ling Lin, Che-Chang Chang, Chia Lang Fang, Tai Tong Wong, Hsin Hung Chen, Min-Lan Tsai

研究成果: 雜誌貢獻文章同行評審


Medulloblastoma (MB) was classified into four molecular subgroups: WNT, SHH, group 3, and group 4. In 2017, 12 subtypes within 4 subgroups and 8 subtypes within non-WNT/non-SHH subgroups according to the differences of clinical features and biology were announced. In this study, we aimed to identify the heterogeneity of molecular features for discovering subtype specific factors linked to diagnosis and prognosis. We retrieved 70 MBs in children to perform RNA sequencing and a DNA methylation array in Taiwan. Integrated with clinical annotations, we achieved classification of 12 subtypes of pediatric MBs in our cohort series with reference to the other reported series. We analyzed the correlation of cell type enrichment in SHH MBs and found that M2 macrophages were enriched in SHH β, which related to good outcomes of SHH MBs. The high infiltration of M2 macrophages may be an indicator of a favorable prognosis and therapeutic target for SHH MBs. Furthermore, C11orf95-RELA fusion was observed to be associated with recurrence and a poor prognosis. These results will contribute to the establishment of a molecular diagnosis linked to prognostic indicators of relevance and help to promote molecular-based risk stratified treatment for MBs in children.

頁(從 - 到)5419
出版狀態已發佈 - 11月 2022

ASJC Scopus subject areas

  • 腫瘤科
  • 癌症研究


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