Liquid biopsy for diffuse intrinsic pontine glioma: an update

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Diffuse intrinsic pontine glioma (DIPG), otherwise known as diffuse midline glioma with H3K27M mutation, is a devastating brainstem glioma without a cure. Efforts are currently underway to better optimize molecular diagnoses through biological sampling, which today remains largely limited to surgical biopsy sampling. Surgical intervention is not without its risks, and therefore a preference remains for a less invasive modality that can provide biological information about the tumor. There is emerging evidence to suggest that a liquid biopsy, targeting biofluids such as CSF and blood plasma, presents an attractive alternative for brain tumors in general. In this update, the authors provide a summary of the progress made to date regarding the use of liquid biopsy to diagnose and monitor DIPG, and they also propose future development and applications of this technique moving forward, given its unique histone biology.

ABBREVIATIONS ctDNA = circulating tumor DNA; ddPCR = droplet digital PCR; DIPG = diffuse intrinsic pontine glioma; H3K27me3 = trimethylation at H3K27; MAF = mutation allele frequency; miRNA = microRNA; NGS = next-generation sequencing; PCR = polymerase chain reaction; qPCR = quantitative PCR.
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Contributor Notes

Correspondence David J. Daniels: Mayo Clinic, Rochester, MN. daniels.david@mayo.edu.INCLUDE WHEN CITING Published online September 6, 2019; DOI: 10.3171/2019.6.PEDS19259.Disclosures Ms. Power recognizes the support by CTSA Grant Number UL1 TR002377 from the National Center for Advancing Translational Sciences (NCATS).
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