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<p>High-grade astrocytomas vary in incidence and mortality across populations, with Hispanic and Latino groups largely underrepresented in genomic epidemiology studies. This study characterizes the presence of known mutations of high-grade astrocytomas in a Latin American cohort through targeted genomic analysis of 70 Chilean patients. Molecular markers, including <i>IDH</i>, <i>TERTp</i>, <i>H3</i>, <i>TP53</i>, <i>PTEN</i>, <i>EGFR</i>, and <i>CDKN2A</i>, were assessed alongside survival analyses. Our results mostly aligned with international cohorts, confirming the importance of established molecular markers in glioblastoma. Novel damaging <i>TP53</i> and <i>PTEN</i> mutations were identified, expanding the genetic spectrum of known mutations for these genes, while a lower-than-expected <i>NF1</i> mutation frequency was observed (<i>p</i> &lt; 0.01). These findings highlight the importance of examining underrepresented populations, providing insights into the molecular characteristics of high-grade astrocytomas in Latin America. Our findings contribute to understanding the diversity of genomic features across astrocytoma populations, setting a foundation for future international comparative studies.</p>

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Characterization of the mutational status of glioblastoma and high-grade astrocytomas in a Latin American cohort

  • 期刊论文

  • 出版模式：

    开放获取

  • 发表日期：

    2025年10月3日

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  • Rodrigo Fernández-Gajardo,
  • Hery Urra,
  • Mauricio Sáez,
  • Philippe Pihán,
  • Beatriz Fonseca,
  • Carolina Sanchez-Doñas,
  • Gabriel Cavada,
  • Claudia Tissera,
  • Rómulo Melo,
  • David Rojas-Zalazar,
  • José M. Matamala,
  • Claudio Hetz

摘要

High-grade astrocytomas vary in incidence and mortality across populations, with Hispanic and Latino groups largely underrepresented in genomic epidemiology studies. This study characterizes the presence of known mutations of high-grade astrocytomas in a Latin American cohort through targeted genomic analysis of 70 Chilean patients. Molecular markers, including IDH, TERTp, H3, TP53, PTEN, EGFR, and CDKN2A, were assessed alongside survival analyses. Our results mostly aligned with international cohorts, confirming the importance of established molecular markers in glioblastoma. Novel damaging TP53 and PTEN mutations were identified, expanding the genetic spectrum of known mutations for these genes, while a lower-than-expected NF1 mutation frequency was observed (p < 0.01). These findings highlight the importance of examining underrepresented populations, providing insights into the molecular characteristics of high-grade astrocytomas in Latin America. Our findings contribute to understanding the diversity of genomic features across astrocytoma populations, setting a foundation for future international comparative studies.