[The Present and Future of Less-invasive Liquid Biopsy for the Diagnosis of Gliomas and Brain Tumors].
No Shinkei Geka
; 49(3): 527-534, 2021 May.
Article
em Ja
| MEDLINE
| ID: mdl-34092558
ABSTRACT
There is growing interest in liquid biopsy, the less-invasive detection of circulating tumor DNA(ctDNA)or circulating tumor cells(CTCs)from cerebrospinal fluid(CSF)and/or serum of patients, for the diagnosis of brain tumors. We share our experience of detecting hot spot point mutations using droplet digital PCR(ddPCR)in ctDNA obtained from the CSF of patients with brain tumors. The detection of mutations such as IDH1 R132H, BRAF V600E, and TERT promoter mutations in gliomas can be diagnostic. For optimal detection of ctDNA, which is only seen at very low concentrations, proper handling and storage of CSF, high-yield extraction of ctDNA, and usage of sensitive PCR methods for detection are imperative. We discuss which mutations can be assessed when diagnosing brain tumors, with a specific focus on gliomas. Finally, we look at what the near future holds for liquid biopsy of brain tumor patients, including next-generation sequencing panel analysis and accurate assessment of fusion genes.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Neoplasias Encefálicas
/
DNA Tumoral Circulante
/
Glioma
Tipo de estudo:
Diagnostic_studies
Limite:
Humans
Idioma:
Ja
Ano de publicação:
2021
Tipo de documento:
Article