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 the gastrointestinal tract and mucocutaneous pigmentation. PJS patients have a significantly increased risk for developing malignant tumors of 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 diagnosts the related cancers in PJS patients, it should be treated the polyps early and set a scientific follow-up schedule in clinic, reducing the harm to a large degree.