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目的 回顾性调查遗传性非息肉病性大肠癌 2 4家系的诊断、治疗经验。方法 对 2 4个遗传性非息肉病性大肠癌家系的诊断、治疗和随访进行回顾性调查 ,分析恶性肿瘤部位、诊断年龄、癌的病理学资料和处理策略。结果 恶性肿瘤在家族中呈常染色体显性遗传 ,2 4个家系中共有患者75名 (多原发癌 2 4名 ) ,共诊断各种恶性肿瘤 12 5个 ,主要有结肠癌 6 3个、直肠癌 2 1个、胃癌 13个、子宫内膜癌 7个、食道癌 6个。患者平均发病年龄 5 1岁 ,较大家系的患者均存在发病年龄逐代提前现象。 2 4 %的大肠癌患者首次手术 10年内再发异时性大肠癌。结论 本病是典型的常染色体显性肿瘤遗传病 ,主要特点包括大肠癌尤其是右侧结肠癌多见 ,多原发癌多见 ;子宫内膜癌、胃癌、食道癌等也是本病的常见肿瘤 ;患者肿瘤发生早并呈发病年龄逐代提前的现象 ;常规肠段切除手术不适于本病大肠癌的治疗 ;对术后患者和可能的突变基因携带者应积极随访
Objective To retrospectively investigate the diagnosis and treatment experience of 24 pedigrees of hereditary nonpolyposis colorectal cancer. Methods The diagnosis, treatment and follow-up of 24 hereditary non-polyposis colorectal cancer families were retrospectively analyzed. The pathological data and treatment strategies of malignant tumor, diagnosis of age and cancer were analyzed. Results Malignant tumors were autosomal dominant in the family. Of the 24 pedigrees, 75 were common (24 with multiple primary cancers). A total of 125 malignant tumors were diagnosed, including 63 colon cancer, 21 rectal cancer, 13 gastric cancer, 7 endometrial cancer and 6 esophageal cancer. Patients with an average age of onset of 51 years of age, the larger family of patients there is the age of onset in advance of the phenomenon. 24% of colorectal cancer patients with recurrent colorectal cancer within 10 years after the first operation. Conclusion The disease is a typical autosomal dominant tumor genetic disease, the main features include colorectal cancer especially right colon cancer more common, more primary cancer more common; endometrial cancer, stomach cancer, esophageal cancer is also the common disease Tumor; patients with early and early age of onset of the phenomenon of aging in advance; conventional bowel resection surgery is not suitable for the treatment of colorectal cancer; postoperative patients and possible mutations in gene carriers should be followed up actively