| Literature DB >> 31896079 |
Tej D Azad1, Michael C Jin2, Lydia J Bernhardt1, Chetan Bettegowda1.
Abstract
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.Entities:
Keywords: CNS = central nervous system; CSF = cerebrospinal fluid; CSF-tDNA = CSF tumor DNA; DIPG = diffuse intrinsic pontine glioma; DMG = diffuse midline glioma; GBM = glioblastoma; NGS = next-generation sequencing; PCR = polymerase chain reaction; RT = radiation therapy; VAF = variant allele fraction; WES = whole-exome sequencing; WGS = whole-genome sequencing; cfDNA = cell-free DNA; ctDNA; ctDNA = circulating tumor DNA; ddPCR = droplet digital PCR; diffuse intrinsic pontine glioma; diffuse midline glioma; liquid biopsy
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Year: 2020 PMID： 31896079 PMCID： PMC7340556 DOI： 10.3171/2019.9.FOCUS19699
Source DB: PubMed Journal: Neurosurg Focus ISSN： 1092-0684 Impact factor: 4.047