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Gastrointestinal Stromal Tumor Resource Center

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Efficacy of trametinib in neurofibromatosis type 1-associated GIST: A case report

Last Updated: Tuesday, September 24, 2024

This case report looked at a 78-year-old woman who presented with abdominal pain, vomiting, and diarrhea. After being diagnosed with primary GISTs, a comprehensive genomic assay was performed and identified a pathogenic NF1 mutation (R1362*) with a 93.8% VAF and a KIT mutation (D816H) with a 1.1% VAF of therapeutic interest. Preclinical data suggest that MEK inhibitors may be therapeutic candidates for tumors caused by NF1 mutations. As part of BELIEVE trial, the patient was treated with trametinib, a selective MEK1/MEK2 inhibitor and experienced tumor shrinkage with acceptable toxicity. 

JCO Precision Oncology
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