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Diagnostics (Basel). 2021 Apr 09;11(4). doi: 10.3390/diagnostics11040681.

Low Detection Rate of H3K27M Mutations in Cerebrospinal Fluid Obtained from Lumbar Puncture in Newly Diagnosed Diffuse Midline Gliomas.

Diagnostics (Basel, Switzerland)

Jotaro On, Manabu Natsumeda, Jun Watanabe, Shoji Saito, Yu Kanemaru, Hideaki Abe, Yoshihiro Tsukamoto, Masayasu Okada, Makoto Oishi, Junichi Yoshimura, Akiyoshi Kakita, Yukihiko Fujii

Affiliations

  1. Department of Neurosurgery, Brain Research Institute, Niigata University, Niigata 951-8585, Japan.
  2. Department of Pathology, Brain Research Institute, Niigata University, Niigata 951-8585, Japan.

PMID: 33918936 PMCID: PMC8070169 DOI: 10.3390/diagnostics11040681

Abstract

Recent studies have suggested the feasibility of detecting H3K27M mutations in the cerebrospinal fluid of diffuse midline glioma (DMG) patients. However, cerebrospinal fluid from patients in these studies were collected mainly during biopsy, ventriculo-peritoneal shunt procedures or postmortem. We assessed circulating tumor DNA (ctDNA) extracted from cerebrospinal fluid (CSF) and plasma in a series of 12 radiographically suspected and/or pathologically confirmed diffuse midline glioma patients and assessed for

Keywords: H3K27M-mutant; circulating tumor DNA; diagnosis; diffuse midline glioma; liquid biopsy

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