Cowden综合征合并进展期胃癌一例并文献复习  

Cowden Syndrome with Advanced Gastric Cancer: A Case Report and Review of the Literatures

作　　者：潘清蓉[1] 高茹[2] 徐援[1] 

机构地区：[1]首都医科大学附属北京朝阳医院内分泌科,北京市100020 [2]首都医科大学附属北京朝阳医院消化科,北京市100020

出　　处：《中国全科医学》2012年第18期2122-2124,共3页Chinese General Practice

摘　　要：Cowden综合征是一种罕见的常染色体显性遗传病,以多发性错构瘤为特征,该病患者甲状腺、乳腺、子宫内膜等恶性肿瘤的发生率明显增高。本文报道了1例中国女性Cowden综合征患者,该患者既往有皮肤脂肪瘤、甲状腺结节、乳腺癌、子宫肌瘤病史。此次入院后检查发现患者面部散在小丘疹,肢端角化,内镜示食管、胃、十二指肠、结肠和直肠多发息肉,术后确诊进展期胃癌。基因检查结果示该患者存在PTEN基因1003位由C到T的点突变。对于怀疑Cowden综合征的患者,应进行详细的体检,尽可能行消化道内镜等检查,完善PTEN基因突变的检查。Cowden syndrome （CS） is a rare autosomal dominant inherited disease. It is characterized by benign hamar- tomatous lesions affecting derivatives of all three germ cell layers. In addition, patients have a higher risk of thyroid, breast and endometrial cancers. Here we present a Chinese female patient with CS. This patient has a history of skin lipoma, thyroid nodules, breast cancer and uterine fibroids. After admission, physical examination found scattered facial papules and acral kerato- sis. Endoscopy examination showed multiple polyps in esophagus, stomach, duodenum, colon and rectum. Post - operative pa- thology confirmed advanced gastric cancer. Genetic test identified a germline mutation in the exon 8 of the PTEN gene, which is a point mutation of C to T at condon 1003. Suspected CS patients should be given detailed physical examination, gastrointestinal en- doscopy and other tests, and it is suggested that all CS patients and their family members should be tested by PTEN mutations.

关 键 词：错构瘤综合征 多发性 PTEN 胃肿瘤 

分 类 号：R730.265.4[医药卫生—肿瘤]