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Review
. 2016 Jun;5(2):84-8.
doi: 10.1055/s-0036-1579759. Epub 2016 Apr 13.

Li-Fraumeni Syndrome

Hernán Correa  1
Affiliations
Review

Li-Fraumeni Syndrome

Hernán Correa. J Pediatr Genet. 2016 Jun.

Abstract

Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome caused by a germline mutation of the TP53 gene on chromosome 17p13.1. It has an autosomal dominant pattern of inheritance with high penetrance. These patients have a very high lifetime cumulative risk of developing multiple malignancies and have a strong family history of early-onset malignancies. The protein p53, encoded by TP53, has a complex set of genome-preserving functions initiated during episodes of cellular stress and DNA damage. In LFS, TP53 gene mutations cause the loss of function of p53, leading to downstream events permissive for development of various malignancies throughout life. The LFS component tumors include soft tissue sarcomas, osteosarcoma, premenopausal breast cancer, brain tumors, and adrenal cortical carcinomas. Multiple types of sarcomas have been reported in association with LFS; this review article will focus on the most frequently encountered pediatric sarcomas associated with TP53 mutations.

Keywords: Li–Fraumeni syndrome; TP53; osteosarcoma; p53; rhabdomyosarcoma.

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Figures

Fig. 1
Fig. 1
(A) Embryonal rhabdomyosarcoma with areas of high and low cellularity. (B) Embryonal rhabdomyosarcoma with a diffuse arrangement of spindle cells with slight cellular pleomorphism. (C) Alveolar rhabdomyosarcoma with discohesive cells and fibrous septae.
Fig. 2
Fig. 2
(A) Osteosarcoma with osteoblastic component. (B) Osteosarcoma with fibroblastic component. (C) Osteosarcoma with chondroblastic component.
See this image and copyright information in PMC

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