Scholarlink

<p>Telomerase reverse transcriptase promoter (<i>TERT</i>p) mutations c.-124C &gt; T (C228T) and c.-146C &gt; T (C250T) are the most frequent single-nucleotide variants promoting telomerase activation in glioblastoma. Here, we describe a rare case of glioblastoma <i>IDH</i>-wildtype with dual <i>TERT</i>p mutations. Genomic analyses of multiregional tumor samples revealed co-occurring <i>TERT</i> C228T and C250T mutations across tumor regions, with variable copy number alterations of <i>EGFR</i> and <i>CDKN2A</i>. Notably, only the <i>TERT</i>p C228T mutation was retained in the corresponding patient-derived xenograft, accompanied by more extensive copy number alterations, implying a selective growth advantage for the <i>TERT</i> C228T-harboring subclone during tumor propagation in this case. These findings suggest that dual <i>TERT</i>p mutations may arise through subclonal evolutionary processes in glioblastoma and highlight telomere maintenance as a dynamic, heterogeneous process rather than invariably representing a fixed early oncogenic event.</p>

错误：搜索内容不能为空，请输入英文关键词
错误：关键词超出字数限制，请精简
高级检索

Dual TERT promoter mutations in glioblastoma, IDH-wildtype: a case report with preclinical investigations

  • 期刊论文

  • 发表日期：

    2026年5月21日

查看全文
  • Yohei Miyake,
  • Kensuke Tateishi,
  • Hinako Okagawa,
  • Akihide Koyama,
  • Emi Hirata,
  • Kanoko Sasaoka,
  • Shuna Saito,
  • Shuto Fushimi,
  • Manabu Natsumeda,
  • Erika Muraoka,
  • Shoji Yamanaka,
  • Satoshi Fujii,
  • Tetsuya Yamamoto

摘要

Telomerase reverse transcriptase promoter (TERTp) mutations c.-124C > T (C228T) and c.-146C > T (C250T) are the most frequent single-nucleotide variants promoting telomerase activation in glioblastoma. Here, we describe a rare case of glioblastoma IDH-wildtype with dual TERTp mutations. Genomic analyses of multiregional tumor samples revealed co-occurring TERT C228T and C250T mutations across tumor regions, with variable copy number alterations of EGFR and CDKN2A. Notably, only the TERTp C228T mutation was retained in the corresponding patient-derived xenograft, accompanied by more extensive copy number alterations, implying a selective growth advantage for the TERT C228T-harboring subclone during tumor propagation in this case. These findings suggest that dual TERTp mutations may arise through subclonal evolutionary processes in glioblastoma and highlight telomere maintenance as a dynamic, heterogeneous process rather than invariably representing a fixed early oncogenic event.