【摘要】 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。更多还原

【Abstract】 Objective To investigate the frequency of LKB 1 gene germline mutations in sporadic and familial Peutz Jeghers patients, and the risk of cancer incidence in Peutz Jeghers patients. Methods (1) PCR SSCP was used to screen 12 patients (9 familial and 3 sporadic), and abnormally shifted bands were sequenced. (2) Data were collected from our hospital and Chinese literature in recent 10 years. Results (1) LKB 1 gene mutations were found in 7/12 pedigrees, most of which were pathogenic. (2) The cancer incidence among 169 Chinese patients was 20 1%, and 20% among larger Peutz Jeghers pedigrees. There were 12 cases of colon cancers, 5 gastric, 3 rectal, 3 small intestinal, 3 cervical, 2 ovary and 2 osteosarcomas. Most of cancers were low differentiated mucous cancer. Conclusions (1) LKB 1 gene germline mutation is an important molecular pathogen of Peutz Jeghers syndrome(PJS). Predictive and diagnostic testing for LKB 1 mutations will be useful for selected patients in both familial and sporadic patients. (2) PJS patients predispose to cancers, including colorectal, gastric, small intestinal, cervical and ovary cancer. These cancers have early onset and poor differentiation.更多还原