黑斑胃肠道息肉综合征36例分析

Analysis on 36 cases of Peutz-Jeghers Syndrome

目的 探讨黑斑胃肠道息肉综合征 (Peutz JeghersSyndrome ,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 2 0 0 2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 91.6 7% ,诊断年龄为 3个月至 6 3岁 ,恶性肿瘤发生率为 4 4 .4 4 % (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 /threoninekinase 11,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 (fragilehistidinetriad ,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。

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.