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Li-fraumeni syndrome: A case report

机译：l i-Frau么你syndrome: A case report

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Introduction. 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. Case report. 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-yearold 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. Conclusion. The presented family highlights the need for careful examination, inspection and notification of the risks of family members diagnosed with LFS related tumors.
机译：介绍。 Li-Fraumeni综合征（LFS）是一种非常罕见的家族性疾病，易患恶性肿瘤，例如骨肉瘤，乳腺癌，脑瘤，白血病和肾上腺肿瘤。遗传是常染色体显性遗传，是由p53基因的杂合突变引起的。诊断基于临床标准：患有肉瘤的45岁以下的人，被诊断患有癌症的45岁以下的最近亲戚以及至多45岁的一级或二级学位的亲戚被诊断为患有肉瘤。癌症，任何年龄都被诊断为肉瘤。案例报告。所介绍的三名成员被诊断患有LFS典型恶性疾病的家庭表明，需要仔细随访那些被诊断为LFS相关肿瘤的人。一名诊断并治疗上颌骨肉瘤的24岁男子在第一年死亡。三年后，他的弟弟因下颌骨骨肉瘤而接受了手术，一年后的24年中，他没有局部复发的迹象。他们的母亲于1996年因多形性胶质母细胞瘤和导管癌而手术，两年后去世，享年33岁。所介绍的家庭强调需要对被诊断患有LFS相关肿瘤的家庭成员进行仔细的检查，检查和通知风险。

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