黑斑息肉综合征临床诊治进展

黑斑息肉综合征(Peutz-Jeghers syndrome,PJS)是一种以皮肤黏膜色素沉着斑、胃肠道多发息肉、家族遗传性为主要特点的常染色体显性遗传病,随着息肉体积增大,患者年龄增加,消化系统及生殖系统等恶性肿瘤发病率明显增加,主要致病基因为19号染色体短臂上的LKB1/STK11(丝氨酸/苏氨酸激酶)基因,是一种肿瘤易感综合征,临床应及早处理胃肠道息肉及密切随访观察,预防恶性肿瘤的发生及早期诊治,减少PJS带来的危害。

Advances in Diagnosis and Treatment of Peutz-Jeghers Syndrome

Peutz-Jeghers syndrome (PJS), an autosomal dominant inherited disorder, is characterized by polyps throughout thegastrointestinal tract and mucocutaneous pigmentation. PJS patients have a significantly increased risk for developing malignant tumorsof multiple organs both in the gastrointestinal tract and in extragastrointestinal sites. The mutations in the serine/threonine kinase 11(STK11) gene at 19p13.3 have been demonstrated to be responsible for most PJS cases. It is a tumor susceptibility syndrome. Therefore,to prevent and early diagnosis the related cancers in PJS patients, it should be treated the polyps early and set a scientific follow-up schedulein clinic, reducing the harm to a large degree.