Routine molecular subgrouping of medulloblastoma: Bridging the divide between research and the clinic using low-cost DNA methylomics


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Edward Schwalbe1,2, Debbie Hicks1, Henning Gohlke3, Gholamreza Rafiee1, Amir Enshaei1, Sandeep Potluri1, Jessica Matthiesen1, Michael Mather1, Ria Chaston4, Steven Crosier1, Amanda Smith1, Daniel Williamson1, Simon Bailey1, Steven Clifford1
1Northern Institute for Cancer Research, Newcastle University, Newcastle upon Tyne, UK,2Northumbria University, Newcastle upon Tyne, UK,3Sequenom, Hamburg, Germany,4NewGene, Newcastle upon Tyne, UK

Abstract

Background

DNA-methylation patterns allow the subclassification of medulloblastoma, the most common childhood malignant brain tumour, into four molecular subgroups (WNT, SHH, MBGrp3 and MBGrp4).  These subgroups have distinct molecular and clinico-pathological features, and their distinction is now informing future treatments and risk-stratification. Whilst microarrays to assign subgroup are suitable for research purposes, they are limited by expense, platform-specificity, sample quality requirements and practicality. Here, we aimed to develop a low-cost, array-independent, robust subgrouping assay suitable for routine quality-controlled subclassification, including scant and poor-quality samples.