論文

査読有り
2021年5月

[The Present and Future of Less-invasive Liquid Biopsy for the Diagnosis of Gliomas and Brain Tumors].

No shinkei geka. Neurological surgery
  • Manabu Natsumeda
  • ,
  • Jotaro On
  • ,
  • Jun Watanabe
  • ,
  • Yoshihiro Tsukamoto
  • ,
  • Masayasu Okada
  • ,
  • Yukihiko Fujii
  • ,
  • Junichi Adachi
  • ,
  • Ryo Nishikawa

49
3
開始ページ
527
終了ページ
534
記述言語
日本語
掲載種別
研究論文(学術雑誌)
DOI
10.11477/mf.1436204425

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.

リンク情報
DOI
https://doi.org/10.11477/mf.1436204425
PubMed
https://www.ncbi.nlm.nih.gov/pubmed/34092558
ID情報
  • DOI : 10.11477/mf.1436204425
  • PubMed ID : 34092558

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