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神经纤维瘤病 1 型在腹部和骨盆的影像学特征。

Imaging Features of Neurofibromatosis Type 1 in the Abdomen and Pelvis.

机构信息

Department of Abdominal Imaging, Mallinckrodt Institute of Radiology, Washington University School of Medicine, 510 S Kingshighway Blvd, St Louis, MO 63110.

Mayo Clinic School of Medicine, Mayo Clinic Hospital, Phoenix, AZ.

出版信息

AJR Am J Roentgenol. 2021 Jan;216(1):241-251. doi: 10.2214/AJR.19.22283. Epub 2020 Nov 19.

Abstract

Loss of the neurofibromatosis type 1 (NF1) tumor suppressor protein causes uninhibited activation of the RAS oncogene, which leads to tumorigenesis in patients with NF1. This case-based review discusses imaging manifestations of NF1 in the abdomen and pelvis, highlighting key genetic associations and management to elucidate features different from the general population. The spectrum of pathologic findings includes gastrointestinal tumors such as gastrointestinal stromal tumors, genitourinary lesions including urogenital neurofibromas, vascular entities such as renal artery stenosis, and less common associations like lymphoma.

摘要

神经纤维瘤病 1 型(NF1)肿瘤抑制蛋白的缺失导致 RAS 癌基因的无抑制激活,从而导致 NF1 患者发生肿瘤。本病例报告回顾性分析了 NF1 在腹部和骨盆的影像学表现,重点讨论了关键的遗传相关性和管理方法,以阐明与普通人群不同的特征。病理表现包括胃肠道肿瘤,如胃肠道间质瘤;泌尿生殖系统病变,如泌尿生殖神经纤维瘤;血管病变,如肾动脉狭窄;以及不太常见的关联,如淋巴瘤。

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