Encyclopedia of Cancer

Living Edition
| Editors: Manfred Schwab

Li-Fraumeni Syndrome

Living reference work entry
DOI: https://doi.org/10.1007/978-3-642-27841-9_3345-3

Definition

Li-Fraumeni syndrome (LFS) is a rare autosomal disorder characterized by a familial clustering of tumors, with a predominance of sarcomas, breast cancers, brain tumors, and adrenocortical carcinomas, diagnosed before the age of 45. Other cancers, including choroid plexus tumor, rhabdomyosarcoma of embryonal anaplastic subtype, leukemia, lung cancer, gastric cancer, skin melanoma, pancreatic cancer, and ovarian cancer, are also present in excess in some families, and in some cases, germ cell tumors, choroid plexus papilloma, and Wilms’ tumor have been reported as part of the spectrum.

Characteristics

Diagnostic Criteria

The clinical criteria used to identify a classic LFS family are:
  • Proband with sarcoma before the age of 45

  • A first-degree relative with any tumor before age 45

  • Another close relative (second or first degree) with cancer before age 45 or a sarcoma at any age

Several clinical criteria for the diagnosis of LFS-like (LFL) families have also been proposed:
  • LFL-E1...

Keywords

Brain Tumor TP53 Mutation TP53 Gene Adrenocortical Carcinoma Hereditary Breast Cancer 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.
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References

  1. Birch JM, Alston RD, McNally RJ et al (2001) Relative frequency and morphology of cancers in carriers of germline TP53 mutations. Oncogene 20:4621–4628CrossRefPubMedGoogle Scholar
  2. Bougeard G, Renaux-Petel M, Flaman JM et al (2015) Revisiting Li-Fraumeni Syndrome From TP53 Mutation Carriers. Clin Oncol 33(21):2345–52CrossRefGoogle Scholar
  3. Chompret A, Abel A, Stoppa-Lyonnet D et al (2001) Sensitivity and predictive value of criteria for p53 germline mutation screening. J Med Genet 38:43–47CrossRefPubMedPubMedCentralGoogle Scholar
  4. Li FP, Fraumeni JFJ, Mulvihill JJ et al (1988) A cancer family syndrome in twenty-four kindreds. Cancer Res 48:5358–5362PubMedGoogle Scholar
  5. Olivier M, Goldgar DE, Sodha N et al (2003) Li-Fraumeni and related syndromes: correlation between tumour type, family structure, and TP53 genotype. Cancer Res 63:6643–6650PubMedGoogle Scholar
  6. Petitjean A, Achatz MI, Borresen-Dale AL et al (2007) TP53 mutations in human cancers: functional selection and impact on cancer prognosis and outcomes. Oncogene 26:2157–2165CrossRefPubMedGoogle Scholar

Copyright information

© Springer-Verlag Berlin Heidelberg 2015

Authors and Affiliations

  1. 1.Group of Molecular CarcinogenesisInternational Agency for Research on Cancer, World Health OrganizationLyonFrance
  2. 2.International Prevention Research InstituteLyonFrance