DIAGNOSIS OF MEDULLOBLASTOMA
DOI:
https://doi.org/10.56238/levv17n59-017Keywords:
Medulloblastoma, Molecular Diagnosis, Liquid Biopsy, Precision Medicine, BiomarkersAbstract
Medulloblastoma, the most common malignant brain tumor in childhood, exhibits significant biological heterogeneity, being classified into four main molecular subgroups (WNT, SHH, Group 3, and Group 4), which determine risk stratification and therapeutic personalization. Contemporary diagnosis has transcended neuroimaging (Magnetic Resonance Imaging) and tissue morphology, now requiring molecular characterization, as recommended by the WHO. Disruptive advances include the use of liquid biopsy, through serial analysis of circulating tumor DNA (cfDNA) in cerebrospinal fluid (CSF), which allows for the early detection of Measurable Residual Disease (MRD) and molecular recurrences. Additionally, metabolic and genomic analysis, such as the identification of pyrimidine synthesis dependence (DHODH enzyme) in high-risk Group 3 tumors with MYC amplification, provides diagnostic and prognostic signatures. The conclusion is that the management of medulloblastoma should utilize a multimodal and precision medicine approach to guide treatment effectively and improve clinical outcomes.
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References
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