Imaging findings of type I neurofibromatosis with outcome of malignant peripheral nerve sheath tumor in the right lower extremity

Neurofibromatosis type 1 (NF1) is an autosomal dominant disorder caused by mutations of the NF1 tumor suppressor gene, characterized by café‐au‐lait spots, neurofibromas, and Lisch nodules. Malignant peripheral nerve sheath tumor (MPNST) is an extremely rare malignancy with neural differentiation po...

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Veröffentlicht in:	Journal of clinical ultrasound 2024-11, Vol.52 (9), p.1450-1452
Hauptverfasser:	Liu, Wen‐hua, Yang, Lei, Wang, Xiao‐yi, Wang, Ting‐yi, Zheng, Guang‐mei, Zhu, Yu‐ting, Che, Shan
Format:	Artikel
Sprache:	eng
Schlagworte:	Adult Diagnosis, Differential Female Hereditary diseases Humans Lower Extremity - diagnostic imaging Magnetic Resonance Imaging - methods Male Malignancy malignant peripheral nerve sheath tumor myofibrillar ultrasound Nerve Sheath Neoplasms - diagnostic imaging Neurofibromatosis Neurofibromatosis 1 - complications Neurofibromatosis 1 - diagnostic imaging neurofibromatosis type I Neurofibromin 1 Nodules Peripheral nerves Recklinghausen's disease Sheaths Tumor suppressor genes Tumors
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Beschreibung
Zusammenfassung:	Neurofibromatosis type 1 (NF1) is an autosomal dominant disorder caused by mutations of the NF1 tumor suppressor gene, characterized by café‐au‐lait spots, neurofibromas, and Lisch nodules. Malignant peripheral nerve sheath tumor (MPNST) is an extremely rare malignancy with neural differentiation potential. The lifetime risk of developing MPNST in NF‐1 patients is 8%–13%.
ISSN:	0091-2751 1097-0096 1097-0096
DOI:	10.1002/jcu.23807