Cheng Frankie Wai Tsoi, To K F, Lee V, Shing M M K, Leung W K, Li C K
Prince of Wales Hospital, The Chinese University of Hong Kong, Department of Paediatrics, Shatin, New Territories, Hong Kong.
BMJ Case Rep. 2009;2009. doi: 10.1136/bcr.07.2008.0516. Epub 2009 Apr 28.
We report the case of a 12-year-old girl with a strong family history of malignancy who presented with immature teratoma and gliomatosis peritonei. Despite first and second line chemotherapy, the disease ran an unusually refractory course. Although the presentation was not the typical tumour presentation of Li-Fraumeni syndrome (LFS), we proceeded to undertake tumour genetic testing of the patient and her parents. LFS was diagnosed in this patient and her father with a sequence variation of CGG>TGG, R248W, which is one of the most common transcriptionally inactive mutations detected in LFS. Genetic counselling was offered to the father. A tumour screening programme and genetic screening for the p53 gene mutation for the surviving family members can be offered once consent is obtained from the father. This case illustrates the importance of cancer genetic study, even if the tumour presentation is not typical for any familial cancer syndrome.
我们报告了一例有恶性肿瘤家族史的12岁女孩，她患有未成熟畸胎瘤和腹膜胶质瘤病。尽管接受了一线和二线化疗，疾病进展异常难治。虽然该病例的表现并非李-弗劳梅尼综合征（LFS）的典型肿瘤表现，但我们仍对患者及其父母进行了肿瘤基因检测。该患者及其父亲被诊断为LFS，存在CGG>TGG、R248W的序列变异，这是LFS中最常见的转录失活突变之一。已为父亲提供了遗传咨询。一旦获得父亲的同意，可为幸存的家庭成员提供肿瘤筛查计划和p53基因突变的基因筛查。该病例说明了癌症基因研究的重要性，即使肿瘤表现并非任何家族性癌症综合征的典型表现。
