同卵双胞胎患家族性息肉病的临床特点及遗传分析  

Clinical characteristics and genetic analysis of familial polyposis in identical twins

作　　者：刘经雷 李朝阳 Liu Jinglei;Li Chaoyang(Department of Gastroenterology,the Affiliated Municipal Hospital of Xuzhou Medical University,Xuzhou 221000,China)

机构地区：[1]徐州医科大学附属市立医院胃肠外科,徐州221000

出　　处：《国际遗传学杂志》2025年第1期59-64,共6页International Journal of Genetics

摘　　要：目的通过对同卵双胞胎患家族性息肉病的临床特点的分析,探讨家族性息肉病的遗传因素在疾病的病理发展过程中的作用。方法2022年来自新疆的一对36岁双胞胎姐妹,分别就诊于新疆医科大学附属中医院和徐州市第一人民医院。对其进行基因检测,结合双胞胎患者家族史,整个诊疗过程、术后病理,癌变部位、浸润深度、病理类型、免疫组化结果进行对比分析。还进行了全基因组文库构建和标准全外显子捕获芯片以及第二代测序。结果对比两位患者的术后标本及病理结果,肿瘤的癌变部位、浸润深度、病理类型、免疫组化结果基本一致,而患者A较B病期晚(T4N2M0-T4N0M0)。基因检测结果显示APC基因1067位密码子c.3199-3202存在AGAA碱基杂合缺失,缺失变异引起移码突变(frame shift)导致从肽链1067个氨基酸(谷氨酰胺Gln)之后氨基酸都发生改变,进而影响APC蛋白功能。结论家族性息肉病的发生,相关基因起到决定性作用。而环境的影响可能会使肿瘤的发生减慢或加速。家族性息肉病息肉癌变的治疗,目前同结直肠癌。Objective To analyze the clinical characteristics of familial polyposis in identical twins,and to explore the role of genetic factors in the pathological development of familial polyposis.MethodsIn 2022,a pair of 36-year-old twin sisters from Xinjiang were admitted to the Affiliated Traditional Chinese Medicine Hospital of Xinjiang Medical University and Xuzhou First People's Hospital respectively.Genetic testing was conducted on them,and a comparative analysis was performed based on the family history of the twin patients,the entire diagnosis and treatment process,postoperative pathology,cancerous site,depth of infiltration,pathological type,and immunohistochemical results.Whole-genome library construction,standard whole-exome capture chip,and second-generation sequencing were also carried out.ResultsComparing the postoperative specimens and pathological results of two patients,the cancerous site,infiltration depth,pathological type,and immunohistochemical results of the tumors were basically consistent,while stage A was later than stage B(T4N2M0-T4N0M0).The disease stage a was later than that of B(T4N2M0-T4N0M0).Gene test results showed that the 1067 codon c 3199-3202 There is a loss of heterozygosity of AGAA base.The deletion mutation causes fs frame shift mutation,which changes the amino acids from 1067 amino acids(glutamine Gln)of the peptide chain,thereby affecting the function of APC protein.ConclusionsThe occurrence of familial polyposis is determined by related genes.The influence of the environment may slow down or accelerate the occurrence of tumors.The treatment of polyp carcinogenesis in familial polyposis is currently the same as that of colorectal cancer.

关 键 词：同卵双胞胎 家族性息肉病 遗传 APC基因 

分 类 号：R735.3[医药卫生—肿瘤]