Identification of clinical prognosis features and significant DNA methylation regulation in pineoblastoma
View abstract on PubMed
Summary
This summary is machine-generated.Pineoblastoma prognosis is linked to patient sex, age, and radiotherapy. Aberrations in RAS and MAPK pathways may influence outcomes, suggesting targeted therapies like dasatinib and trametinib could improve survival.
Area Of Science
- Oncology
- Genetics
- Bioinformatics
Background
- Pineoblastoma (PB) presents significant clinical management challenges due to the absence of specific therapeutic regimens.
- Identifying prognostic factors and therapeutic targets is crucial for improving patient outcomes.
Purpose Of The Study
- To identify independent prognostic factors for overall survival (OS) in pineoblastoma patients.
- To explore potential therapeutic targets by analyzing DNA methylation patterns and associated signaling pathways.
Main Methods
- Utilized SEER database (2000-2019) for clinical data and survival analysis (Cox regression, nomogram).
- Analyzed DNA methylation data from GEO datasets (GSE133801, GSE215240) using bioinformatics approaches.
- Performed Gene Ontology (GO) and KEGG pathway enrichment analyses on aberrantly methylated genes.
Main Results
- Male gender, age < 3 years, and lack of radiotherapy were associated with poorer OS in 383 PB patients.
- Multivariate analysis confirmed sex, age, and radiotherapy as independent prognostic factors.
- DNA methylation analysis revealed tumor hypomethylation, particularly in promoter regions, linked to embryonic development and MAPK/RAS signaling pathways.
Conclusions
- Pineoblastoma prognosis is significantly influenced by sex, age at diagnosis, and radiotherapy.
- Aberrations in RAS and MAPK signaling pathways are implicated in PB pathogenesis.
- Dasatinib and trametinib show potential as targeted therapies for pineoblastoma.
Related Concept Videos
Epigenetic changes alter the physical structure of the DNA without changing the genetic sequence and often regulate whether genes are turned on or off. This regulation ensures that each cell produces only proteins necessary for its function. For example, proteins that promote bone growth are not produced in muscle cells. Epigenetic mechanisms play an essential role in healthy development. Conversely, precisely regulated epigenetic mechanisms are disrupted in diseases like cancer.
X-chromosome...
Under normal conditions, most adult cells remain in a non-proliferative state unless stimulated by internal or external factors to replace lost cells. Abnormal cell proliferation is a condition in which the cell's growth exceeds and is uncoordinated with normal cells. In such situations, cell division persists in the same excessive manner even after cessation of the stimuli, leading to persistent tumors. The tumor arises from the damaged cells that replicate to pass the damage to the...
Diploid organisms inherit genetic material through chromosomes from both parents. Copies of the same gene are known as alleles. In most cases, both alleles are simultaneously expressed and allow various cellular processes to function optimally. If one of the alleles is missing or mutated, the expression of the other allele can compensate; however, this is not true for all genes.
The expression of some genes depends on which parent passed the gene to the offspring, through a phenomenon known as...

