摘要
Peutz-Jeghers综合征(PJS)亦称黑斑息肉病,是一种较少见的常染色体显性遗传疾病,约40%的患者有阳性家族史,现已证实部分PJS患者的发病与丝氨酸/苏氨酸蛋白激酶基因的突变有关。PJS的临床表现以皮肤黏膜色素沉着、消化道多发错构瘤性息肉和癌症易患性为主要特征,严重影响患者的生活质量。现对PJS胃肠道息肉的病理类型、好发部位、息肉的癌变情况等国内外研究成果进行综述。
Peutz-Jeghers syndrome（PJS）is a relatively rare family autosomal dominant genetic disease,about 40% patients has a positive family history.It has been proved that the serine/threonine protein kinase gene mutations contributed to the pathogenesis of PJS in some patients.Pigmentation of skin and mucous membrane,multiple hamartoma polyps in the digestive tract and cancer predisposition are the main characteristics in clinic,affecting the quality of life of the patients seriously.Here is to make a review on the research results about pathological types of tract polyps,the predilection site,mechanism of cancerations of PJS at home and abroad.
出处
《医学综述》
2012年第23期4016-4018,共3页
Medical Recapitulate
