黑斑胃肠道息肉综合征36例分析

目的 探讨黑斑胃肠道息肉综合征(Peutz—Jeghers Syndrome，PJS)家族聚集性、癌变风险、治疗随访及易感基因突变。方法 回顾性分析1994年至2002年间随访的10个PJS家系36个患者的临床资料及18例手术治疗，分析其中15例患者易感基因突变的情况。结果 36例患者中33例有家族史，占91．67％，诊断年龄为3个月至63岁，恶性肿瘤发生率为44．44％(16／36)，恶变部位以结肠为主；18例患者息肉主要分布于小肠，其次是结肠和胃，均为腺瘤样息肉；15例患者中有13例患者的丝氨酸／苏氨酸激酶11(serine／threonine kinase11，STK11)基因存在突变，有2例PJS癌变患者的癌变组织存在脆弱性组氨酸三联体(fragile histidine triad，FHIT)基因第8外显子的缺失。结论 PJS结肠息肉癌变的危险性很大，对PJS患者及其家族成员进行监测、随访、定期复查和及早诊治，以减少或控制息肉癌变的可能性，提高患者的生活质量。

Analysis on 36 cases of Peutz-Jeghers Syndrome

Objective To investigate the assemble character of family,risk of cancer,follow-up for the patients,the surgical treatment and the susceptible genes on Peutz-Jeghers Syndrome(PJS).Methods Retrospective analysis was made of 36 cases collected from 10 PJS families during 1994 to 2002.The operation treatment on 18 cases and the mutations of tumour susceptible genes in 15 cases were also analyzed.Results Thirty-three patients( 96.10%) had family history.The diagnosis age was from 3 months to 63 years old.The canceration rate was 44.44%(16/36).The priority part of canceration was colon.In our 18 cases,the polyps were mainly distributed in small intestine,then in colon and stomach,all were adenoma polyps.In 15 cases,13 cases had points mutation of serine /threonine kinase 11(STK11) gene,and 2 cases of canceration had lost exon 8 of fragile histidine triad(FHIT) gene.Conclusion The colon polyp of PJS has high risk of cancer.The patients of PJS could be screened changes of tumour susceptible genes,and they should be followed up and called back regularly in order to make a diagnosis and given treatment at early stage.So the patients may reduce or control the possibility of the polyp risk of cancer.