Medulloblastoma is the most common pediatric malignant brain tumor composed of four molecular subgroups. Recent intensive genomics has greatly contributed to our understanding of medulloblastoma pathogenesis. Sequencing studies identified novel mutations involved in the cyclic AMP-dependent pathway or RNA processing in the Sonic Hedgehog (SHH) subgroup, and core-binding factor subunit alpha (CBFA) complex in the group 4 subgroup. Likewise, single-cell sequencing provided detailed insights into the cell of origin associated with brain development. In this review, we will summarize recent findings by sequencing analyses for medulloblastoma.
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Genomic landscape of medulloblastoma subtypes in an Asian cohort.
Transl Cancer Res
December 2024
BGI Research, Chongqing, China.
Background: Medulloblastoma (MB) is a highly malignant childhood brain tumor. Previous research on the genetic underpinnings of MB subtypes has predominantly focused on European and American cohorts. Given the notable genetic differences between Asian and other populations, a subtype-specific study on an Asian cohort is essential to provide comprehensive insights into MB within this demographic.
View Article and Find Full Text PDFHigh cellular plasticity state of medulloblastoma local recurrence and distant dissemination.
Cell Rep Med
January 2025
Beijing Neurosurgical Institute, Beijing 100070, China; China National Clinical Research Center for Neurological Diseases, Beijing Tiantan Hospital, Capital Medical University, Beijing 100070, China; Department of Neurosurgery, Beijing Tiantan Hospital, Capital Medical University, Beijing 100070, China. Electronic address:
Medulloblastoma (MB), a heterogeneous pediatric brain tumor, poses challenges in the treatment of tumor recurrence and dissemination. To characterize cellular diversity and genetic features, we comprehensively analyzed single-cell/nucleus RNA sequencing (sc/snRNA-seq), single-nucleus assay for transposase-accessible chromatin sequencing (snATAC-seq), and spatial transcriptomics profiles and identified distinct cellular populations in SHH (sonic hedgehog) and Group_3 subgroups, with varying proportions in local recurrence or dissemination. Local recurrence showed higher cycling tumor cell enrichment, whereas disseminated lesions had a relatively notable presence of differentiated subsets.
View Article and Find Full Text PDFPediatric Brain Tumors in Western Kenya: Patient Outcomes and Healthcare Providers' Perspectives.
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Academic Model Providing Access to Healthcare (AMPATH), Eldoret, Kenya.
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- Pediatric brain tumors in low- and middle-income countries, particularly Western Kenya, are less studied than other pediatric cancers, and effective care relies on collaboration among multiple medical departments.
- The study found that, between 2015 and 2022, 79 children were diagnosed with brain tumors, primarily medulloblastoma, with a low 2-year event-free survival rate of 13% and a significant treatment abandonment rate of 46%.
- Improvements in multidisciplinary care were noted from 2020 to 2022, influenced by factors such as resources, knowledge, and relationships among healthcare workers; addressing these barriers is essential for enhancing patient outcomes.
Epigenetic Modifiers: Exploring the Roles of Histone Methyltransferases and Demethylases in Cancer and Neurodegeneration.
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Department of Gastrointestinal Medical Oncology, The University of Texas MD Anderson Cancer Center, 1515 Holcombe Blvd., Houston, TX 77030, USA.
Histone methyltransferases (HMTs) and histone demethylases (HDMs) are critical enzymes that regulate chromatin dynamics and gene expression through the addition and removal of methyl groups on histone proteins. HMTs, such as PRC2 and SETD2, are involved in the trimethylation of histone H3 at lysine 27 and lysine 36, influencing gene silencing and activation. Dysregulation of these enzymes often leads to abnormal gene expression and contributes to tumorigenesis.
View Article and Find Full Text PDFCell type transcriptional identities are maintained in cultured human brain tissue.
bioRxiv
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Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX,77030, USA.
It is becoming more broadly accepted that human-based models are needed to better understand the complexities of the human nervous system and its diseases. The recently developed human brain organotypic culture model is one highly promising model that requires the involvement of neurosurgeons and neurosurgical patients. Studies have investigated the electrophysiological properties of neurons in such human tissues, but the maintenance of other cell types within explanted brain remains largely unknown.
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