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目的 检测黑斑息肉病患者LKB 1基因胚系突变及特点 ,并调查国内黑斑息肉病患者的肿瘤发生率和肿瘤发生特点。方法 (1)对 12例确诊的黑斑息肉病患者 (9例家族性 ,3例散发性 )取血 ,提取血脱氧核糖核酸 (DNA) ,分别以多聚酶链反应 (PCR)扩增LKB 1的 9个外显子 ,并逐一测序 ;(2 )综合分析作者搜集的 5个大的黑斑息肉病家系 32例患者和 7例散发性患者 ,并结合国内近 10年来报道的较大家系和有关文献 34篇共计 16 9例患者 ,总结恶性肿瘤的发生率和特点。结果 (1) 12例患者中 ,7例有LKB 1的胚系突变 ,多数突变为病理性突变 ;(2 )综合分析 16 9例患者中 ,恶性肿瘤发生率为 2 0 1% ,家族性患者 90例中恶性肿瘤发生率为2 0 .0 %。发病较多的肿瘤为结肠癌 12例 ,胃癌 5例 ,直肠癌、小肠癌和宫颈癌各 3例 ,卵巢癌和骨肉瘤各 2例 ,病理类型以低分化黏液腺癌为多 ,患者平均确诊年龄 32 2岁。结论 (1)LKB 1基因胚系突变是本病重要的分子遗传学基础 ,LKB 1基因突变检测可用于多数患者的遗传学诊断 ;(2 )黑斑息肉病患者是典型的肿瘤高发人群 ,常见肿瘤依次为结直肠癌、胃癌、小肠癌、宫颈癌和卵巢癌等 ,恶性肿瘤发病年龄轻 ,分化较差。
Objective To detect the germline mutation and characteristics of LKB 1 gene in patients with polyposis, and to investigate the tumor incidence and tumorigenesis in patients with melasma polyposis. Methods (1) Blood samples were obtained from 12 patients (9 familial and 3 sporadic) diagnosed with Pneumococcal disease. Blood deoxyribonucleic acid (DNA) was extracted and polymerase chain reaction (PCR) was used to amplify LKB 1 9 exons were sequenced one by one; (2) Comprehensive analysis of the authors collected 5 large families of 32 patients with melasma polyposis and 7 sporadic patients, combined with the larger families reported in the past 10 years and related A total of 189 articles were reviewed in 34 articles, summarizing the incidence and characteristics of malignant tumors. Results (1) Of the 12 patients, 7 had a germline mutation of LKB 1 and most of the mutations were pathological. (2) In a comprehensive analysis of 169 patients, the incidence of malignant tumors was 20.1%. Familial patients The incidence of malignant tumors in 90 cases was 20%. The tumors with more incidence were colon cancer (12 cases), gastric cancer (5 cases), rectal cancer (3 cases), small intestine cancer (3 cases), and cervical cancer (3 cases). There were 2 cases of ovarian cancer and osteosarcoma. The pathological type was poorly differentiated mucinous adenocarcinoma. Age 32 2 years old. Conclusion (1) The germline mutation of LKB 1 gene is an important molecular genetic basis of the disease. Detection of LKB 1 gene mutation can be used for genetic diagnosis in most patients; (2) Patients with melanotic polyposis are typical high-incidence tumor populations. The tumors were colorectal cancer, gastric cancer, small intestine cancer, cervical cancer and ovarian cancer. The onset of malignant tumors was young and the differentiation was poor.