五个家族性腺瘤性息肉病家系分析

目的分析5个家族性腺瘤性息肉病（FAP）家系，总结常染色体显性遗传规律。 方法对5个FAP家系进行调查分析，取外周血、粪便行全外显子组测序（WES）筛查大肠癌基因，行结肠镜检查并取活体组织进行病理分析。 结果5个家系中，连续几代发生FAP，当父亲或者母亲患FAP后，其子代发生FAP的概率均等（50%），无性别差异，发病者均存在腺瘤样结肠息肉病基因（APC）突变，未成年人中未见发病，部分患者患有2种以上肿瘤。 结论在有FAP病史的家系中，未成年人一般不发病，成年后均需要进行APC基因检测及结肠镜检查，一旦发现腺瘤需要尽早进行内镜下治疗，避免结直肠癌的发生。

Analysis of five families with adenomatous polyposis

ObjectiveTo analyze the autosomal dominant inheritance of five families of adenomatous polyposis (FAP). MethodsFive FAP families were investigated and examined. Peripheral blood and feces were taken for whole-exon sequencing to screen colorectal cancergenes. Colonoscopy was performed and biopsy tissues were taken for pathological analysis. ResultsIn the five families, FAP occurred in successive generations. When the father or mother had FAP, the probability of FAP occurred in the offspring was equal (50%) without gender difference. All the patients had adenomatous polyposis coli gene (APC) mutation. Some patients had more than two types of tumors. ConclusionsIn families with a history of FAP, FAP generally does not develop in juveniles, and APC gene testing and colonoscopy are needed in adults. Once adenoma is found, endoscopic treatment should be performed as soon as possible to avoid the occurrence of colorectal cancer.