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<p>Neurofibromatosis type I (NF1) is a heritable disease that may lead to the occurrence of primary central nervous system tumors, including gliomas. Treatment of NF1-associated diffuse gliomas is cumbersome due to the limited evidence and the risk of radio-induced secondary malignancies. Pediatric NF1-associated tumors are well-known to respond to MEK inhibition. However, the evidence in adults is extraordinarily limited, particularly for malignant gliomas. A 49-year-old with NF1 and diagnosed with a high-grade midline glioma affecting the right tectal, thalamic and subthalamic regions. Due to the high morbidity associated with the procedure, a tumor biopsy was not performed and treatment with the MEK inhibitor trametinib 2&#xa0;mg per day was started with good tolerance and rapid and sustained radiological and neurological amelioration, lasting for 8 months, after which progressive disease occurred. Prospective efforts should be conducted to better characterize the natural history, molecular characteristics and MEK inhibitor treatment in adult patients with NF1-associated gliomas.</p>

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Durable response to trametinib in a neurofibromatosis type 1 associated adult glioma—a case report

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2026年7月8日

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  • Santiago Cabezas-Camarero,
  • Rebeca Pérez-Alfayate,
  • Carmen Polidura,
  • María Natividad Gómez-Ruiz,
  • Víctor Lorca,
  • Pedro Pérez-Segura

摘要

Neurofibromatosis type I (NF1) is a heritable disease that may lead to the occurrence of primary central nervous system tumors, including gliomas. Treatment of NF1-associated diffuse gliomas is cumbersome due to the limited evidence and the risk of radio-induced secondary malignancies. Pediatric NF1-associated tumors are well-known to respond to MEK inhibition. However, the evidence in adults is extraordinarily limited, particularly for malignant gliomas. A 49-year-old with NF1 and diagnosed with a high-grade midline glioma affecting the right tectal, thalamic and subthalamic regions. Due to the high morbidity associated with the procedure, a tumor biopsy was not performed and treatment with the MEK inhibitor trametinib 2 mg per day was started with good tolerance and rapid and sustained radiological and neurological amelioration, lasting for 8 months, after which progressive disease occurred. Prospective efforts should be conducted to better characterize the natural history, molecular characteristics and MEK inhibitor treatment in adult patients with NF1-associated gliomas.