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

Wen-Hua Liu; Lei Yang; Xiao-Yi Wang; Ting-Yi Wang; Guang-Mei Zheng; Yu-Ting Zhu; Shan Che

doi:10.1002/jcu.23807

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

J Clin Ultrasound. 2024 Nov-Dec;52(9):1450-1452. doi: 10.1002/jcu.23807. Epub 2024 Aug 28.

Authors

Wen-Hua Liu¹, Lei Yang¹, Xiao-Yi Wang¹, Ting-Yi Wang¹, Guang-Mei Zheng¹, Yu-Ting Zhu², Shan Che¹

Affiliations

¹ Department of Ultrasound, Renmin Hospital, Hubei University of Medicine, Shiyan, China.
² Department of Neurology, Taihe Hospital, Hubei University of Medicine, Shiyan, China.

PMID: 39198889
DOI: 10.1002/jcu.23807

Abstract

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%.

Keywords: malignant peripheral nerve sheath tumor; myofibrillar ultrasound; neurofibromatosis type I.

Publication types

Case Reports

MeSH terms

Adult
Diagnosis, Differential
Female
Humans
Lower Extremity / diagnostic imaging
Magnetic Resonance Imaging / methods
Male
Nerve Sheath Neoplasms* / diagnostic imaging
Neurofibromatosis 1* / complications
Neurofibromatosis 1* / diagnostic imaging