The Li-Fraumeni syndrome
The Li-Fraumeni syndrome
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DOI：
10.1016/s0300-9084(01)01361-x
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发表时间：
2002-01-01
期刊：
影响因子：
3.9
通讯作者：
Chompret, A
中科院分区：
文献类型：
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作者：
Chompret, A
李法美尼综合征 (LFS) 是该综合征最常用的术语。它是一种罕见的家族显性遗传癌症综合征，其特征是在儿童和年轻人中发生多种肿瘤。 LFS 的规范定义包括先证者在 45 岁之前被诊断患有肉瘤、在该年龄之前患有癌症的一级亲属以及谱系中在该年龄之前患有任何癌症或在任何年龄患有肉瘤的另一位一级或二级亲属。多项研究报告了世界各地 LFS 家族中的 p53 种系突变。与散发性肿瘤一样，在美国肿瘤中观察到杂合性丧失导致野生型等位基因因缺失或突变而失活。据估计，突变携带者的癌症风险在男性中为 73%，在女性中接近 100%，这种差异几乎完全可以用乳腺癌来解释。在罕见的癌症易感家庭中鉴定种系 p53 突变已引起医学、咨询、心理和伦理问题，(C) 2002 Societe francaise de biochimie et biologie molecularaire / Editions scientifiques et Medicales Elsevier SAS。
Li-Fraumeni syndrome (LFS) has been the most common terminology used for the syndrome. It is a rare familial dominantly inherited cancer syndrome characterized by a wide spectrum of neoplasms occurring in children and young adults. The canonical definition of LFS includes a proband diagnosed with sarcoma before 45 years of age, a first-degree relative with cancer before this same age and another first or second-degree relative in the lineage with any cancer before this age or sarcoma at any age. Multiple studies have reported p53 germline mutations in LFS families in various parts of the world. As in sporadic tumors, loss of heterozygosity leading to the inactivation of the wild-type allele by deletion or mutation is observed in US tumors. Cancer-risk in mutation carriers has been estimated to be 73% in males and nearly 100% in females, the difference almost entirely explained by breast cancer. The identification of germline p53 mutations in rare cancer-prone families has given rise to the medical, counseling, psychological and ethical problems, (C) 2002 Societe francaise de biochimie et biologie moleculaire / Editions scientifiques et medicales Elsevier SAS.