Peutz-Jeghers综合征研究进展

Research Progress of Peutz-Jeghers Syndrome

Peutz-Jeghers综合征(PJS)是一种以皮肤黏膜色素沉着、胃肠道多发息肉和阳性家族史为特征的肿瘤易感性常染色体显性遗传疾病,其致病基因为位于染色体19p上的STK11基因。我国PJS比较罕见。本文就PJS的发病机制、临床特征、诊疗等方面的研究现状作一综述。

Peutz-Jeghers syndrome (PJS) is an autosomal dominant inheritance disease with tumor susceptibility and characterized by skin mucosal pigmentation, multiple gastrointestinal polyps and positive family history, and its pathogenetic gene is the STK11 gene located at 19p. The disease is rare in China. This article reviewed the current status of research on pathogenesis, clinical features, diagnosis and treatment of PJS.