Ilić Miroslav P, Kiralj Aleksandar, Markov Borislav, Mijatov Ivana, Mijatov Saša, Vučković Nada
Vojnosanit Pregl. 2014 Dec;71(12):1159-62. doi: 10.2298/vsp1412159i.
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.
The presented family with three members diagnosed with malignant disease typical for LFS suggests the need to carefully follow those diagnosed with LFS related tumor. A 24-year-old man diagnosed and treated for osteosarcoma of the maxilla died in the first year. His younger brother was submitted to surgery due to osteosarcoma of the mandible three years later, and a year later in his 24 year he had no signs of locoregional recurrence. Their mother was operated in 1996 for glioblastoma multiform brain cancer and ductal carcinoma, and died two years later at the age of 33.
The presented family highlights the need for careful examination, inspection and notification of the risks of family members diagnosed with LFS related tumors.
李-佛美尼综合征（LFS）是一种非常罕见的家族性疾病，易患恶性肿瘤，如骨肉瘤、乳腺癌、脑肿瘤、白血病和肾上腺肿瘤。其遗传方式为常染色体显性遗传，由p53基因的杂合突变引起。诊断基于临床标准：一名45岁以下患有肉瘤的患者、一名45岁以下被诊断患有癌症的近亲以及一名45岁及以下的一级或二级亲属被诊断患有癌症且在任何年龄被诊断患有肉瘤。
这个有三名成员被诊断患有典型LFS恶性疾病的家庭表明，有必要仔细跟踪那些被诊断患有与LFS相关肿瘤的患者。一名24岁被诊断并接受上颌骨肉瘤治疗的男子在第一年去世。三年后，他的弟弟因下颌骨肉瘤接受了手术，一年后，在他24岁时没有局部复发的迹象。他们的母亲在1996年接受了多形性胶质母细胞瘤和导管癌手术，两年后于33岁去世。
这个家庭突出了对被诊断患有与LFS相关肿瘤的家庭成员进行仔细检查、监测和告知风险的必要性。
