Imaging Features of Neurofibromatosis Type 1 in the Abdomen and Pelvis

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

Abstract

OBJECTIVE. 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. CONCLUSION. 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.

Keywords: lymphoma; malignant peripheral nerve sheath tumor; neurofibroma; neurofibromatosis type 1; paraganglioma; pheochromocytoma; renal artery stenosis.

Publication types

  • Review

MeSH terms

  • Abdomen / diagnostic imaging*
  • Humans
  • Neurofibromatosis 1 / diagnostic imaging*
  • Pelvis / diagnostic imaging*