Cancer Res Treat.  2021 Apr;53(2):389-398. 10.4143/crt.2020.694.

Clinical and Genomic Characteristics of Adult Diffuse Midline Glioma

  • 1Department of Internal Medicine, Seoul National University Hospital, Seoul, Korea
  • 2Cancer Research Institute, Seoul National University, Seoul, Korea
  • 3Department of Pathology, Seoul National University Hospital, Seoul, Korea
  • 4Biomedical Research Institute, Seoul National University Hospital, Seoul, Korea
  • 5Department of Neurosurgery, Seoul National University Hospital, Seoul, Korea
  • 6Department of Radiology, Seoul National University Hospital, Seoul, Korea
  • 7Department of Neurology, Seoul National University Hospital, Seoul, Korea
  • 8Department of Radiation Oncology, Seoul National University Hospital, Seoul, Korea


The treatment outcomes and genomic profiles of diffuse midline glioma (DMG) in adult patients are rarely characterized. We performed a retrospective study to evaluate the clinicogenomic profiles of adult patients with brain DMG.
Materials and Methods
Patients aged ≥ 18 years diagnosed with brain DMG at Seoul National University Hospital were included. The clinicopathological parameters, treatment outcomes, survival, and genomic profiles using 82-gene targeted next-generation sequencing (NGS) were analyzed. The 6-month progression-free survival (PFS6) after radiotherapy and overall survival (OS) were evaluated.
Thirty-three patients with H3-mutant brain DMG were identified. The median OS from diagnosis was 21.8 months (95% confidence interval [CI], 13.2 to not available [NA]) and involvement of the ponto-medullary area tended to have poor OS (median OS, 20.4 months [95% CI, 9.3 to NA] vs. 43.6 months [95% CI, 18.2 to NA]; p=0.07). Twenty-four patients (72.7%) received radiotherapy with or without temozolomide. The PFS6 rate was 83.3% (n=20). Patients without progression at 6 months showed significantly prolonged OS compared with those with progression at 6 months (median OS, 24.9 months [95% CI, 20.4 to NA] vs. 10.8 months [95% CI, 4.0 to NA]; p=0.02, respectively). Targeted NGS was performed in 13 patients with DMG, among whom nine (69.2%) harbored concurrent TP53 mutation. Two patients (DMG14 and DMG23) with PIK3CAR38S+E545K and KRASG12A mutations received matched therapies. Patient DMG14 received sirolimus with a PFS of 8.4 months.
PFS6 after radiotherapy was associated with prolonged survival in adult patients with DMG. Genome-based matched therapy may be an encouraging approach for progressive adult patients with DMG.


Diffuse midline glioma; Concurrent chemoradiotherapy; Targeted sequencing
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