Integrated Medulloblastoma Genomics Study Reveals Refined View of Tumor Subtypes

NEW YORK (GenomeWeb) – A new study is providing a refined look at the molecular subtypes that can occur in a form of childhood brain tumor called medulloblastoma.

Members of an international team led by investigators in Germany and Canada analyzed somatic mutations in nearly 500 medulloblastoma tumors, along with epigenetic patterns in tumors from nearly 1,300 individuals with the malignant pediatric brain tumor condition. The findings, published online today in Nature, led to new and known medulloblastoma classifications, including methylation-based groups falling within two previously documented subtypes.

“Our highly integrative genomic analysis of the pediatric brain tumor [medulloblastoma] has enabled the discovery of new cancer genes and actionable pathways, effectively assigning candidate drivers to most tumors across molecular sub-groups,” the authors wrote.

Four medulloblastoma molecular subtypes have been described through past tumor profiling projects, the team explained, including a WNT subtype marked by Wingless pathway activation and a subtype with constitutive Sonic hedgehog pathway activation, known as the SHH subgroup. The remaining two subtypes — Group 3 and Group 4 medulloblastomas — are molecularly murkier and defined mainly from expression and/or epigenetic profiles.

“Targeted therapies for [medulloblastoma] are scarce yet desperately needed, warranting intensive investigation into the full range

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