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目的 分析遗传性非息肉病性大肠癌家系肿瘤的基因表达及特点、诊治经验。 方法分析 2 4个遗传性非息肉病性大肠癌家系的诊断、治疗和随访结果 ,记录恶性肿瘤部位、确诊年龄、同时性和 (或 )异时性癌、肿瘤的病理学资料。应用聚合酶链反应和单链构像多态性方法检测家族成员hMLH1和hMSH2各外显子 ,对可疑突变片段测序。 结果 2 4个家系中共有患者 75例 ,共诊断各种恶性肿瘤 12 5个 ,主要有大肠癌、胃癌、子宫内膜癌等。本组诊断大肠癌患者 6 4例 (异时性多原发大肠癌 16例 ) ,2 4 %的大肠癌患者首次手术 10年内再发异时性大肠癌。发现 2个家系携带hMSH2基因、1个家系携带hMLH1基因种系突变 ,均产生截短蛋白 ,3个家族中已发现 12例突变基因携带者。结论 本病主要特点是恶性肿瘤早发、多发 ;结肠直肠癌 ,尤其是右侧结肠癌为主 ;多原发癌 ,尤其是多原发性大肠癌多见 ;家族发病年龄逐代提前。常规肠段切除手术可能不适于此类大肠癌的治疗。已发现 2个家系有hMSH2基因、1个家系有hMLH1基因突变
Objective To analyze the gene expression, characteristics, diagnosis and treatment of hereditary nonpolyposis colorectal cancer. Methods The diagnosis, treatment and follow-up results of 24 hereditary non-polyposis colorectal cancer families were analyzed. The histopathological data of malignant tumor, confirmed age, simultaneous and / or metachronous cancer and tumor were recorded. The exon of hMLH1 and hMSH2 were detected by polymerase chain reaction and single strand conformation polymorphism, and the suspicious mutation fragments were sequenced. Results Totally 75 patients were enrolled in 24 pedigrees, of whom 125 were diagnosed with various malignant tumors, including colorectal cancer, gastric cancer and endometrial cancer. This group of patients diagnosed 64 cases of colorectal cancer (16 cases of heterogenous multiple primary colorectal cancer), 24% of patients with colorectal cancer within 10 years of the first surgery recurrent hematoma. It was found that two families carrying hMSH2 gene and one pedigree carrying the germline mutation of hMLH1 gene all produce truncated proteins and 12 cases of mutation gene carriers have been found in three families. Conclusion The main features of this disease are malignant tumor of early onset, multiple; colorectal cancer, especially right colon cancer; multiple primary cancer, especially multiple primary colorectal cancer more common; family age of onset in advance of one another. Conventional bowel resection may not be suitable for the treatment of such colorectal cancer. Two families have been found hMSH2 gene, a family of hMLH1 gene mutations