Cavalier Mary Ellen, Davis Mary M, Croop James M
Indiana University School of Medicine, Division of Pediatric Hematology/Oncology, Indianapolis, IN 46202, USA.
J Pediatr Hematol Oncol. 2005 Aug;27(8):441-3. doi: 10.1097/01.mph.0000176732.68090.c8.
Li-Fraumeni syndrome and the LF-like syndrome, rare heritable conditions that predispose to the development of malignancy, are associated with germline mutations of the tumor suppressor gene p53. The authors describe a 14-month-old boy who presented with synchronous rhabdomyosarcoma and adrenal cortical carcinoma and a novel mutation of the p53 gene. Analysis of exons 2 through 11 of the p53 gene using the polymerase chain reaction and DNA sequencing revealed a mutation of codon 273. Although codon 273 is a known hotspot region for p53 mutation, the patient's mutation, R273H, has not been associated with development of adrenal cortical carcinoma.
李-佛美尼综合征和类李-佛美尼综合征是罕见的遗传性疾病，易引发恶性肿瘤，与肿瘤抑制基因p53的种系突变有关。作者描述了一名14个月大的男孩，他同时患有横纹肌肉瘤和肾上腺皮质癌，并且p53基因存在一种新的突变。使用聚合酶链反应和DNA测序对p53基因的第2至11外显子进行分析，发现密码子273发生了突变。尽管密码子273是p53突变的一个已知热点区域，但该患者的R273H突变与肾上腺皮质癌的发生并无关联。
