Journal
NEUROSURGICAL FOCUS
Volume 48, Issue 1, Pages -Publisher
AMER ASSOC NEUROLOGICAL SURGEONS
DOI: 10.3171/2019.9.FOCUS19699
Keywords
ctDNA; diffuse midline glioma; diffuse intrinsic pontine glioma; liquid biopsy
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Funding
- Thomas M. Hohman Memorial Cancer Research Fund
- Burroughs Wellcome Career Award for Medical Scientists
- National Institutes of Health [R21-CA208723, R37-CA230400]
- Chi-Li Pao Foundation
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Diffuse midline glioma (DMG) is a highly malignant childhood tumor with an exceedingly poor prognosis and limited treatment options. The majority of these tumors harbor somatic mutations in genes encoding histone variants. These recurrent mutations correlate with treatment response and are forming the basis for molecularly guided clinical trials. The ability to detect these mutations, either in circulating tumor DNA (ctDNA) or cerebrospinal fluid tumor DNA (CSF-tDNA), may enable noninvasive molecular profiling and earlier prediction of treatment response. Here, the authors review ctDNA and CSF-tDNA detection methods, detail recent studies that have explored detection of ctDNA and CSF-tDNA in patients with DMG, and discuss the implications of liquid biopsies for patients with DMG.
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