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

• DOI: 10.3390/diagnostics11040681
• Publication Date: 2021-04-12T07:04:06Z
• Authors: Jotaro On; Manabu Natsumeda; Jun Watanabe; Shoji Saito; Yu Kanemaru; Hideaki Abe; Yoshihiro Tsukamoto; Masayasu Okada; Makoto Oishi; Junichi Yoshimura; Akiyoshi Kakita; Yukihiko Fujii
• Keywords: Brain biopsy

Recent studies have suggested the feasibility of detecting H3K27M mutations in cerebrospinal fluid diffuse midline glioma (DMG) patients. However, from patients these were collected mainly during biopsy, ventriculo-peritoneal shunt procedures or postmortem. We assessed circulating tumor DNA (ctDNA) extracted (CSF) and plasma a series 12 radiographically suspected and/or pathologically confirmed for H3F3A K27M mutation using digital droplet PCR. In 10 patients, CSF was obtained by lumbar puncture at presentation. A definitive detection achieved only one case (10%); three other cases (30%). detected two ventricular tap obstructive hydrocephalus. Cases which assessment possible (definite definite wildtype) tended to be younger (median 7.5 years vs. 40.5 years; p = 0.07) higher concentration protein 123 mg/dL 27.5 mg/dL; 0.21) compared nondefinite cases. Low proliferation apoptotic rates seemed characteristics DMG unfavorable liquid biopsy. More advanced lesions with necrosis evidence dissemination unlikely candidates due fear exacerbating Methods safely sample more sensitive ctDNA are necessary reliable biopsy