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Updated: Dec 1, 2025
Digital Spatial Profiling for Characterization of the Microenvironment in Adult-Type Diffusely Infiltrating Glioma
Published on: September 13, 2022
Clinical and Genomic Characteristics of Adult Diffuse Midline Glioma
Changhee Park1, Tae Min Kim1,2, Jeong Mo Bae3
1Department of Internal Medicine, Seoul National University Hospital, Seoul, Korea.
Purpose:
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.
Results:
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.
Conclusion:
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.
Insights
Progression-free survival after radiotherapy is linked to longer survival in adult diffuse midline glioma (DMG) patients. Genome-based targeted therapies show promise for progressive adult DMG cases.
Area of Science:
- Neuro-oncology
- Genomics
- Clinical Research
Background:
- Diffuse midline glioma (DMG) in adults is understudied regarding treatment outcomes and genomic profiles.
- Characterizing these profiles is crucial for improving patient care.
Purpose of the Study:
- To evaluate the clinicogenomic profiles of adult patients with brain diffuse midline glioma (DMG).
- To assess treatment outcomes and survival in this patient cohort.
Main Methods:
- Retrospective analysis of adult patients (≥18 years) diagnosed with brain DMG.
- Evaluation of clinicopathological parameters, treatment outcomes, and survival.
- Genomic profiling using 82-gene targeted next-generation sequencing (NGS).
- Assessment of 6-month progression-free survival (PFS6) and overall survival (OS).
Main Results:
- Thirty-three adult patients with H3-mutant brain DMG were identified.
- Median overall survival (OS) was 21.8 months; ponto-medullary involvement trended towards poorer OS.
- The 6-month progression-free survival (PFS6) rate after radiotherapy was 83.3%.
- Patients without 6-month progression had significantly longer OS (24.9 months vs. 10.8 months).
- Concurrent TP53 mutations were found in 69.2% of analyzed patients.
- Two patients received matched therapies based on genomic profiles, with one achieving 8.4 months PFS on sirolimus.
Conclusions:
- Six-month progression-free survival (PFS6) post-radiotherapy is a significant indicator of prolonged survival in adult DMG patients.
- Genome-based matched therapy presents a promising strategy for adult patients with progressive DMG.
