Detection of gene mutations and gene-gene fusions in circulating cell-free DNA of glioblastoma patients: an avenue for clinically relevant diagnostic analysis.
Biomarkers, Tumor
/ genetics
Cell-Free Nucleic Acids
/ genetics
Cytoskeletal Proteins
/ genetics
DNA, Neoplasm
Gene Fusion
Glioblastoma
/ diagnosis
High-Throughput Nucleotide Sequencing
/ methods
Humans
Imatinib Mesylate
Mutation
/ genetics
Oncogene Proteins, Fusion
/ genetics
Protein-Tyrosine Kinases
/ genetics
Proto-Oncogene Proteins
/ genetics
circulating cell-free DNA
druggable
gene mutation
gene-gene fusion
glioblastoma
liquid biopsy
Journal
Molecular oncology
ISSN: 1878-0261
Titre abrégé: Mol Oncol
Pays: United States
ID NLM: 101308230
Informations de publication
Date de publication:
05 2022
05 2022
Historique:
revised:
04
09
2021
received:
24
12
2020
accepted:
06
12
2021
pubmed:
8
12
2021
medline:
24
5
2022
entrez:
7
12
2021
Statut:
ppublish
Résumé
Glioblastoma (GBM) is the most common type of glioma and is uniformly fatal. Currently, tumour heterogeneity and mutation acquisition are major impedances for tailoring personalized therapy. We collected blood and tumour tissue samples from 25 GBM patients and 25 blood samples from healthy controls. Cell-free DNA (cfDNA) was extracted from the plasma of GBM patients and from healthy controls. Tumour DNA was extracted from fresh tumour samples. Extracted DNA was sequenced using a whole-genome sequencing procedure. We also collected 180 tumour DNA datasets from GBM patients publicly available at the TCGA/PANCANCER project. These data were analysed for mutations and gene-gene fusions that could be potential druggable targets. We found that plasma cfDNA concentrations in GBM patients were significantly elevated (22.6 ± 5 ng·mL
Identifiants
pubmed: 34875133
doi: 10.1002/1878-0261.13157
pmc: PMC9120899
doi:
Substances chimiques
Biomarkers, Tumor
0
CEP85L protein, human
0
Cell-Free Nucleic Acids
0
Cytoskeletal Proteins
0
DNA, Neoplasm
0
Oncogene Proteins, Fusion
0
Proto-Oncogene Proteins
0
Imatinib Mesylate
8A1O1M485B
Protein-Tyrosine Kinases
EC 2.7.10.1
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
2098-2114Informations de copyright
© 2021 The Authors. Molecular Oncology published by John Wiley & Sons Ltd on behalf of Federation of European Biochemical Societies.
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