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

IF 1.2 4区 医学 Q3 ACOUSTICS Journal of Clinical Ultrasound Pub Date : 2024-11-01 Epub Date: 2024-08-28 DOI:10.1002/jcu.23807
Wen-Hua Liu, Lei Yang, Xiao-Yi Wang, Ting-Yi Wang, Guang-Mei Zheng, Yu-Ting Zhu, Shan Che
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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%.

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I型神经纤维瘤病的影像学检查结果显示右下肢患有恶性周围神经鞘瘤。
神经纤维瘤病 1 型(NF1)是一种常染色体显性遗传疾病,由 NF1 肿瘤抑制基因突变引起,以咖啡斑、神经纤维瘤和 Lisch 结节为特征。恶性周围神经鞘瘤(MPNST)是一种极其罕见的具有神经分化潜能的恶性肿瘤。NF-1 患者终生罹患 MPNST 的风险为 8%-13%。
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来源期刊
CiteScore
1.90
自引率
0.00%
发文量
248
审稿时长
6 months
期刊介绍: The Journal of Clinical Ultrasound (JCU) is an international journal dedicated to the worldwide dissemination of scientific information on diagnostic and therapeutic applications of medical sonography. The scope of the journal includes--but is not limited to--the following areas: sonography of the gastrointestinal tract, genitourinary tract, vascular system, nervous system, head and neck, chest, breast, musculoskeletal system, and other superficial structures; Doppler applications; obstetric and pediatric applications; and interventional sonography. Studies comparing sonography with other imaging modalities are encouraged, as are studies evaluating the economic impact of sonography. Also within the journal''s scope are innovations and improvements in instrumentation and examination techniques and the use of contrast agents. JCU publishes original research articles, case reports, pictorial essays, technical notes, and letters to the editor. The journal is also dedicated to being an educational resource for its readers, through the publication of review articles and various scientific contributions from members of the editorial board and other world-renowned experts in sonography.
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