Insights into ependymoma

Two independent studies have illuminated the fine molecular details of ependymoma tumors and identified targets for a previously intractable disease. A St. Jude Children's Research Hospital team focused on forebrain ependymomas and identified a fusion protein as a potential target,1 whereas researchers at The Hospital for Sick Children and the German Cancer Research Center focused on hindbrain ependymomas and uncovered epigenetic modifiers.2

In both cases, companies think follow-up studies will be necessary to determine the therapeutic potential of the targets.

Ependymomas are tumors of the brain and spinal cord. Each anatomical compartment-supratentorial (forebrain), posterior fossa (hindbrain) or spinal-can house additional molecular subtypes of ependymoma.3-5

Surgery and radiation are standard care as chemotherapy is ineffective in most patients. Indeed, up to 40% of ependymomas are incurable.6

Part of the problem is that although ependymoma tumors are histologically similar to each other, they exhibit variable transcriptional profiles and DNA copy number alterations.

In the new studies, both teams first used whole-genome sequencing to characterize genetic alterations in samples from patients with ependymoma in hopes of finding unique genetic signatures for each molecular subtype. However, both teams found very few single nucleotide variations, insertions, deletions or focal copy number variations.

The teams thus dug deeper to characterize the genomic makeup of

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