Li–Fraumeni syndrome

Li–Fraumeni syndrome
Other namesSarcoma family syndrome of Li and Fraumeni, SBLA
Li–Fraumeni syndrome is inherited via an autosomal dominant manner
SpecialtyOncology, medical genetics, neurology 

Li–Fraumeni syndrome (LFS) is a rare, autosomal dominant, hereditary disorder[1] that predisposes carriers to cancer development. It was named after two American physicians, Frederick Pei Li and Joseph F. Fraumeni Jr., who first recognized the syndrome after reviewing the medical records and death certificates of childhood rhabdomyosarcoma patients.[2] The disease is also known as SBLA, for the Sarcoma, Breast, Leukemia, and Adrenal Gland cancers that it is known to cause.[3][4]

  1. ^ Custódio G, Parise GA, Kiesel Filho N, Komechen H, Sabbaga CC, Rosati R, et al. (July 2013). "Impact of neonatal screening and surveillance for the TP53 R337H mutation on early detection of childhood adrenocortical tumors". Journal of Clinical Oncology. 31 (20): 2619–2626. doi:10.1200/JCO.2012.46.3711. PMC 3808236. PMID 23733769.
  2. ^ Li FP, Fraumeni JF (October 1969). "Soft-tissue sarcomas, breast cancer, and other neoplasms. A familial syndrome?". Annals of Internal Medicine. 71 (4): 747–752. doi:10.7326/0003-4819-71-4-747. PMID 5360287. S2CID 7540982.
  3. ^ Evans DG, Hanson H (13 March 2024). "Li-Fraumeni syndrome". UpToDate. Wolters Kluwer. Retrieved 20 August 2024.
  4. ^ Aedma SK, Kasi A (2024). "Li-Fraumeni Syndrome". StatPearls. StatPearls Publishing. PMID 30335319.
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