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MYCN-amplified medulloblastoma

Wednesday 9 May 2012

Focal high-level amplifications of MYC (or MYCC) define a subset of high-risk medulloblastoma patients.

Transcriptomic analysis revealed SHH-driven tumorigenesis in a subset of MYCN-MBs indicating a biological dichotomy of MYCN-MB.

Activation of SHH is accompanied by variant-specific cytogenetic aberrations including deletion of 9q in SHH tumors.

Non-SHH MB are associated with gain of 7q and isochromosome 17q/17q gain.

Among clinically relevant variables, SHH subtype and 10q loss for non-SHH tumors comprised the most powerful markers of favorable prognosis in MYCN-MB.

Based on the enrichment of MYCN and GLI2 amplifications in SHH-driven medulloblastoma, amplification of these downstream signaling intermediates should be taken into account before a patient is enrolled into a clinical trial using a smoothened inhibitor.

Open references

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