Diagnosis and treatment of neurofibromatosis type 1 with malignant transformation and multiple gastrointestinal stromal tumors: a case report and literature review

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A 51-year-old female with neurofibromatosis type 1 (NF1) developed malignant peripheral nerve sheath tumor (MPNST) and gastrointestinal stromal tumors (GIST).
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The patient underwent multiple surgeries for MPNST and neurofibromas, with the most recent surgery revealing multiple GISTs and extragastrointestinal stromal tumors (EGISTs).
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GISTs are common in NF1 patients, with approximately one-third affected, and typically lack KIT/PDGFRA gene mutations, differing from sporadic cases.
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Surgery is the primary treatment for NF1-associated tumors, and comprehensive imaging and pathology are crucial for accurate diagnosis and management.
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This case highlights the rare co-occurrence of MPNST, GIST, and multiple EGISTs in a single NF1 patient, emphasizing the need for careful clinical evaluation.

Frontiers In Medicine

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