Department of Liver Surgery, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100730, China; ; Peking Union Medical College, Beijing 100730, China;
Chin J Cancer Res. 2013 Jun;25(3):306-11. doi: 10.3978/j.issn.1000-9604.2013.06.02.
Cowden syndrome (CS), an autosomal dominant disorder, is one of a spectrum of clinical disorders that have been linked to germline mutations in the phosphatase and tensin homolog (PTEN) gene. Although 70-80% of patients with CS have an identifiable germline PTEN mutation, the clinical diagnosis presents many challenges because of the phenotypic and genotypic variations. In the present study, we sequenced the exons and the promoter of PTEN gene, mutations and variations in the promoter and exons were identified, and a PTEN protein expression negative region was determined by immunohistochemistry (IHC). In conclusion, a novel promoter mutation we found in PTEN gene may turn off PTEN protein expression occasionally, leading to the disorder of PTEN and untypical CS manifestations.
考登综合征（CS）是一种常染色体显性遗传病，属于一组与磷酸酶和张力蛋白同源物（PTEN）基因突变相关的临床疾病谱。尽管 70%-80%的 CS 患者存在可识别的种系 PTEN 突变，但由于表型和基因型的变异，临床诊断仍存在诸多挑战。在本研究中，我们对 PTEN 基因的外显子和启动子进行了测序，鉴定了启动子和外显子中的突变和变异，并通过免疫组织化学（IHC）确定了 PTEN 蛋白表达阴性区域。总之，我们在 PTEN 基因中发现的一种新的启动子突变可能偶尔会导致 PTEN 蛋白表达关闭，从而导致 PTEN 紊乱和非典型 CS 表现。
