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<p>We report the case of a 25-year-old female patient with neurofibromatosis type 1 who was diagnosed with a thalamic high-grade glioma (HGG). She was initially treated with a combination of radiotherapy and concurrent temozolomide (TMZ). Following 7&#xa0;months of TMZ treatment, an MRI showed tumor progression. Empiric treatment with trametinib was started, which demonstrated significant regression of the lesion. She is currently alive with stable disease 4&#xa0;years post-initial diagnosis.</p>

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Sustained response to trametinib in an adult patient with neurofibromatosis type 1 and high-grade glioma

  • 期刊论文

  • 发表日期：

    2025年6月4日

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  • Bertrand Dion,
  • Sayanthen Sathyakumar,
  • Jacob Silverman,
  • Hallie Coltin,
  • Geneviève Legault,
  • Sébastien Perreault,
  • Myreille D’Astous,
  • Nathalie Lessard,
  • Stephan Saikali,
  • Norbert Dion,
  • Sebastiano Lava,
  • Eric Bouffet,
  • Nada Jabado,
  • Samuele Renzi

摘要

We report the case of a 25-year-old female patient with neurofibromatosis type 1 who was diagnosed with a thalamic high-grade glioma (HGG). She was initially treated with a combination of radiotherapy and concurrent temozolomide (TMZ). Following 7 months of TMZ treatment, an MRI showed tumor progression. Empiric treatment with trametinib was started, which demonstrated significant regression of the lesion. She is currently alive with stable disease 4 years post-initial diagnosis.