Skip to main content
padlock icon - secure page this page is secure

Free Content Neuroradiology Manifestations of Li-Fraumeni Syndrome: Epidemiology, Genetics, Imaging Findings, and Management

Download Article:
 Download
(HTML 62.6 kb)
 
or
 Download
(PDF 3,428 kb)
 
Li-Fraumeni syndrome is a familial cancer predisposition syndrome associated with germline mutation of the tumor suppressor gene 53, which encodes the tumor suppressor p53 protein. Affected patients are predisposed to an increased risk of cancer development, including soft-tissue sarcomas, breast cancer, brain tumors, and adrenocortical carcinoma, among other malignancies. The tumor suppressor gene TP53 plays an important, complex role in regulating the cell cycle, collaborating with transcription factors and other proteins. The disruption of appropriate cell cycle regulation by mutated TP53 is considered to be the cause of tumorigenesis in Li-Fraumeni syndrome. Appropriate surveillance, predominantly by using MR imaging, is used for early malignancy screening in an effort to improve the survival rate among individuals who are affected. Patients with Li-Fraumeni syndrome are also at increased risk for neoplasm development after radiation exposure, and, therefore, avoiding unnecessary radiation in both the diagnostic and therapeutic settings is paramount. Here, we review the epidemiology, genetics, imaging findings, and the current standard surveillance protocol for Li-Fraumeni syndrome from the National Comprehensive Cancer Network as well as potential treatment options.

Learning Objective: Describe the cause of second primary malignancy among patients with Li-Fraumeni syndrome.
No References
No Citations
No Supplementary Data
No Article Media
No Metrics

Keywords: LFS = Li-Fraumeni syndrome; TP53 = tumor suppressor gene 53

Document Type: Research Article

Publication date: August 1, 2020

More about this publication?
  • Neurographics is the peer-reviewed, bimonthly educational journal of the American Society of Neuroradiology. The journal comprises articles selected from material presented at the ASNR Annual Meeting. Neurographics also publishes other high-quality submissions that are primarily educational and have a high emphasis on a pictorial approach. Neurographics offers CME credit for reading review articles and completing quiz-based self-assessment activities.

    Visit the ASNR Education Connection to view all available CME courses.

  • Editorial Board
  • Information for Authors
  • Membership Information
  • Order a Print Copy
  • Ingenta Connect is not responsible for the content or availability of external websites
  • Access Key
  • Free content
  • Partial Free content
  • New content
  • Open access content
  • Partial Open access content
  • Subscribed content
  • Partial Subscribed content
  • Free trial content
Cookie Policy
X
Cookie Policy
Ingenta Connect website makes use of cookies so as to keep track of data that you have filled in. I am Happy with this Find out more