A rare presentation of thyroid malignant peripheral nerve sheath tumor in neurofibromatosis type 1 delineated by FDG PET/CT: A case report and literature review

Abstract

Malignant peripheral nerve sheath tumors (MPNST) are rare, aggressive soft tissue sarcomas that arise from peripheral nerves and often present a diagnostic and therapeutic challenge. They can occur sporadically or in association with neurofibromatosis type 1 (NF1), a genetic disorder caused by mutations in the NF1 gene. This report presents the unique case of a 33-year-old male with progressive dry cough, hoarseness, and neck swelling who underwent a total thyroidectomy, revealing a high-grade malignant peripheral nerve sheath tumor invading the thyroid. FDG PET/CT led to the additional diagnosis of NF1. This case stands out due to the rarity of finding an MPNST within the thyroid and the simultaneous identification of NF1. It underscores the importance of screening MPNST patients for NF1 and vice versa, spotlighting the expanding role of FDG PET/CT in comprehensive evaluations. To our knowledge, this report presents the first case of NF1-associated MPNST with thyroid involvement worldwide.

Keywords

• malignant peripheral nerve sheath tumor
• neurofibromatosis type 1
• thyroid
• pet/ct