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<p>H3K27-altered diffuse midline gliomas (H3-DMGs) represent aggressive tumors with fatal outcome and exceedingly rare cases have a long-term survival (LTS). We included 5 adult thalamic H3-DMG LTS and 13 short-term survivors (STS), and performed whole exome sequencing, RNA-seq and DNA methylation array. The median overall survival was 48.0 ± 12.1 months for LTS and 12.5 ± 5.9 months for STS. There was no significant difference in clinical characteristics and treatment received between LTS and STS. LTS exhibited more copy number gain and amplification (<i>P</i> = 0.007), and tumor microenvironment analysis revealed increased accumulation of M1 macrophage (<i>P</i> = 0.005) alongside a notable reduction in cancer-associated fibroblast in LTS (<i>P</i> = 0.037). The signatures of LTS and STS were signature 30 (similarity = 76.7%) and signature 6 (81.8%), respectively. Of note, LTS exhibited hypermethylated CpG island (<i>P</i> = 0.002). Additionally, we demonstrated that LTS and STS could be distinguished using differentially methylated probes. Collectively, the present study delineated unique molecular characteristics of LTS H3-DMG.</p>

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Comprehensive molecular characterization of adult H3K27M mutated thalamic glioma long-term survivors

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2025年6月13日

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  • Hao Xu,
  • Xiaomu Hu,
  • Biyun Wang,
  • Ying Sun,
  • Ye Wang,
  • Qisheng Tang,
  • Qiongji Zhu,
  • Kun Song,
  • Hong Chen,
  • Lingchao Chen,
  • Haixia Cheng,
  • Zhiyong Qin

摘要

H3K27-altered diffuse midline gliomas (H3-DMGs) represent aggressive tumors with fatal outcome and exceedingly rare cases have a long-term survival (LTS). We included 5 adult thalamic H3-DMG LTS and 13 short-term survivors (STS), and performed whole exome sequencing, RNA-seq and DNA methylation array. The median overall survival was 48.0 ± 12.1 months for LTS and 12.5 ± 5.9 months for STS. There was no significant difference in clinical characteristics and treatment received between LTS and STS. LTS exhibited more copy number gain and amplification (P = 0.007), and tumor microenvironment analysis revealed increased accumulation of M1 macrophage (P = 0.005) alongside a notable reduction in cancer-associated fibroblast in LTS (P = 0.037). The signatures of LTS and STS were signature 30 (similarity = 76.7%) and signature 6 (81.8%), respectively. Of note, LTS exhibited hypermethylated CpG island (P = 0.002). Additionally, we demonstrated that LTS and STS could be distinguished using differentially methylated probes. Collectively, the present study delineated unique molecular characteristics of LTS H3-DMG.