黑斑息肉综合征临床诊治进展.pdfVIP

2190 · · 现代生物医学进展 Progress in Modern Biomedicine Vol.11 NO.11 JUN.2011 黑斑息肉综合征临床诊治进展 曹强坚 李 威△ （汕头大学医学院第一附属医院 广东汕头515041） 摘要：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 19 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 号 LKB1/STK11( / ) 染色体短臂上的 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， PJS 预防恶性肿瘤的发生及早期诊治，减少 带来的危害。 关键词：黑斑息肉综合征；诊断；治疗；进展 R596.1 A 1673-6273 2011 11-2190-04 中图分类号： 文献标识码： 文章编号： （ ） Advances in Diagnosis and Treatment of Peutz-Jeghers Syndrome CAO Qiang -j ian, LI Wei△ First Affiliated Hosp italof Shantou University Medical College, GuangdongShantou 51504 1 （ ） ABSTRACT: 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 diagnosis 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. Key Words: Peutz-Jeghers syndrome; Diagnosis; Treatment; Advances