Tokunaga A, Onda M, Matsukura N, Kato S
First Department of Surgery, Nippon Medical School.
Nihon Rinsho. 1995 Nov;53(11):2797-802.
The Li-Fraumeni syndrome was initially recognized through clinical observations at the bed side, which was followed by epidemiological studies. Children suffering from rhabdomyosarcoma were shown to have two or more of six forms of cancer in their parents, grandparents and other relatives, indicating cancer family syndrome. This syndrome has been shown to involve tumor suppressor gene p53 mutations in the germ-line. The patients in the family most often have a proband with soft tissue sarcoma or osteosarcoma, and relatives with breast cancer, brain tumor, leukemia and adrenocortical cancer. Members of the family also appear to be at risk for developing second independent malignancies during their life span. Recommendations on predictive testing for germ line p53 mutations among cancer-prone individuals have been made by the subcommittees, which were sponsored by National Cancer Institute and the National Center for Human Genome Research.
李-弗劳梅尼综合征最初是通过床边临床观察被识别出来的，随后进行了流行病学研究。患有横纹肌肉瘤的儿童在其父母、祖父母和其他亲属中被发现有六种癌症中的两种或更多种，这表明存在癌症家族综合征。已证明该综合征涉及种系中的肿瘤抑制基因p53突变。家族中的患者最常见的是有一名软组织肉瘤或骨肉瘤先证者，以及患有乳腺癌、脑肿瘤、白血病和肾上腺皮质癌的亲属。家族成员在其一生中似乎也有发生第二种独立恶性肿瘤的风险。由美国国立癌症研究所和国家人类基因组研究中心赞助的小组委员会已就癌症易感个体种系p53突变的预测性检测提出了建议。
