Open AccessLi-fraumeni syndrome: A case report
Author(s) -
Miroslav Ilić,
Aleksandar Kiralj,
Borislav Markov,
Ivana Mijatov,
Saša Mijatov,
Nada Vučković
Publication year - 2014
Publication title -
vojnosanitetski pregled
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.123
H-Index - 19
eISSN - 2406-0720
pISSN - 0042-8450
DOI - 10.2298/vsp1412159i
Subject(s) - medicine , li–fraumeni syndrome , osteosarcoma , cancer , family history , sarcoma , breast cancer , disease , pediatrics , pathology , germline mutation , mutation , gene , biochemistry , chemistry
Li-Fraumeni syndrome (LFS) is a very rare familial disease with the predisposition to the development of malignant tumors, such as osteosarcoma, breast cancer, brain neoplasm, leukemia, and adrenal tumors. Inheritance is autosomal dominant and is caused by heterozygous mutations in the p53 gene. The diagnosis is based on clinical criteria: a person under the age of 45 years suffering from sarcoma, the closest relative younger than 45 years diagnosed with cancer and a relative of the first or second degree, which is up to 45 years, was diagnosed with cancer and was diagnosed with sarcoma at any age.
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