PJS染色体脆性部位和癌基因位点的相关性研究

以黑色素斑胃肠道息肉病（ＰＪＳ）两家系７例患者外周血淋巴细胞经双诱导法制备染色体脆性部位，观察其部位数量，表达次数及其与癌基因位点，癌断裂点同位率，并观察高分辨染色体表达情况，结果显示，ＰＪＳ染色体具有很强的不稳定性及较高的肿瘤遗传易感性，但也存在着明显个体差异。

胃良恶性疾病外周血淋巴细胞染色体脆性位点表达与胃癌的发生

目的：探讨胃良恶性疾病外周血淋巴细胞染色体脆性位点表达与胃癌发生的关系。方法：采用低叶酸培养条件，比较胃癌（１５例）与慢性浅表性胃炎和胃溃疡（各１５例）患者的外周血淋巴细胞染色体脆性位点表达率，差异有非常显著性意义（Ｐ＜００１）。结果：胃癌组中阳性个体表达例数有统计学意义的７个脆性位点５个与癌断裂点、癌基因居染色体同一区带，涉及到７个癌基因，表明与癌基因同位或相邻的脆性位点活跃表达在胃癌发生中起了极重要的作用。同一胃癌患者染色体畸变表现为多个癌基因位点共同表达，显示胃癌的发生发展是多基因损伤的结果。结论：胃良性疾病患者外周血淋巴细胞染色体上１ｑ２１及某些协同位点共同畸变时，应考虑胃癌发生的可能。

桥本氏甲状腺炎伴发病变中BRAF V600E基因突变率的研究

目的通过检测BRAF V600E基因在桥本氏甲状腺炎(以下简称桥本)及伴发良、恶性病变中的突变情况,探讨该基因改变在疾病发生中的作用及意义。方法选取昆明市第一人民医院诊断为桥本及合并病变78例,进行BRAF V600E基因检测及资料收集,对结果进行分析及统计。结果在21例桥本组,57例乳头状癌组(伴桥本及不伴桥本)BRAF V600E突变阳性病例分别为0、23例,桥本组与乳头状癌组比较,差异具有统计学意义(P<0.05)。结论BRAF V600E基因突变的分子标记,可以作为乳头状癌早期诊断的参考指标之一,协助对桥本氏甲状腺炎恶性不典型病变的诊断。

FHIT、WWOX蛋白在子宫内膜癌中的表达及临床意义

目的探讨脆性位点抑癌基因FHIT和WWOX蛋白在子宫内膜癌的表达及临床意义。方法对56例肿瘤标本应用免疫组织化学SP法检测FHIT和WWOX蛋白在子宫内膜癌组织中的表达。结果 FHIT和WWOX两种基因蛋白表达与子宫内膜癌临床分期、组织学分级及淋巴结转移密切相关(P<0.05)。在同一标本中,二者表达有密切相关性和较好的一致性(P<0.05)。结论 FHIT和WWOX蛋白的表达与卵巢上皮性癌的浸润和转移密切相关,检测其表达异常对判断肿瘤的分化、临床进展以及推测预后有一定的参考价值[1]。

脆性部位与人类肿瘤

近年来,染色体脆性部位与人类肿瘤的关系,是遗传学家与肿瘤学家研究的重要课题,引起人们极大的关注。本文围绕其二者的关系作一简要的综述。

Effect of deleted pancreatic cancer locus 4 gene transfection on biological behaviors of human colorectal carcinoma cells

AIM: To investigate the effect of deleted pancreatic cancer locus 4 (DPC4) gene transfection on biological behaviors of human colorectal carcinoma cells and the role of DPC4 gene in colorectal carcinogenesis. METHODS: PcDNA3.1-DPC4 plasmid was re-constructed by gene-recombination technology. SW620 cells, a human colorectal carcinoma cell line, were transfected with PcDNA3.1-DPC4 plasmid using lipofectamine transfecting technique. Transfected cells were selected with G418. Expression of Smad4 protein was detected in cells transfected with DPC4 gene by immunohistochemistry and Western blot. Biological characterristics of transfected cells were evaluated by population-doubling time and cloning efficiency. Alterations of percentage of S phage cells (S%) and apoptosis rate were determined by flow-cytometry. RESULTS: PcDNA3.1-DPC4 plasmid was constructed successfully. SW620 cells transfected with PcDNA3.1-DPC4 plasmid (DPC4+-SW620 cells) showed a strong intracellular expression of Smad4 protein, and the positive signal was localized in cytoplasm and nuclei, mainly in cytoplasm, where the expressions of Smad4 protein in SW620 cells transfected with PcDNA3.1 plasmid (PcDNA3.1-SW620 cells) and non-transfected SW620 cells (SW620 cells) were weaker than those in DPC4+-SW620 cells. The population-doubling time in DPC4+-SW620 cells (116 h) was significantly longer than that in SW620 cells (31 h) and PcDNA3.1-Sw620 cells (29 h) (P<0.01). The cloning efficiencies of DPC4+-SW620 cells (12%) were markedly lower than those of SW620 cells (69%) and PcDNA3.1-Sw620 cells (67%) (P<0.01). Compared with SW620 cells and PcDNA3.1-Sw620 cells, the Go-G1% of DPC4+-SW620 cells was obviously higher and the S% was markedly lower (P<0.05). Apoptosis rate of DPC4+-SW620 cells was significantly higher than that of SW620 cells and PcDNA3.1-SW620 cells. CONCLUSION: PcDNA3.1-DPC4 plasmid can be successfully re-constructed and stably transfected into human SW620cells, thereby the cells can steadily express Smad4. DPC4 protein may regulate proliferation of colorectal carcinoma cells by inhibiting cell growth and inducing cell apoptosis.

肾透明细胞癌3，7，8，9，17号染色体的杂合性缺失研究

肿瘤常在抑癌基因位点上出现染色体基因缺失，多表现为等位基因杂合性缺失（LOH）。我们通过检测肿瘤的LOH及其规律，旨在一定染色体范围内发现肿瘤相关的抑癌基因。

Relationship between Mutations in DNA Sequences Loci Coding Pre-miRNAs and Genes Related to Biogenesis of SncRNAs with MiRNA Expression in Endometrial Carcinoma Tissues

Endometrial cancer （EC） is the most common and lethal gynaecological cancer type in Europe and in North America. Frequently EC arises more in the corpus proper and manifests as round, polypoid expansile masses, but it may also originate in the lower uterine segment or spread in endometrium with necrosis and hemorrhage. The analysis was performed using a custom panel containing all DNA sequences loci coding pre-miRNAs and genes related to biogenesis and regulation of sncRNAs in normal and tumor tissues extracted from 6 unrelated patients with endometrial carcinoma. The identified variations were correlated with mature miRNAs differentially expressed in the same normal and tumor endometrial tissues. The comparison analysis confirmed the high degree of cellular and genetic intratumoral heterogeneity with a temporal and spatial miRNA expression distribution in association with genomic variants identified. The classification of specific DNA mutations, onto the loci identified, should be suitable to characterize possible instability genome regions and help classification of tumors to ameliorate the clinical management of patients affected by endometrial carcinoma.

上海新华医院肛肠外科开设双休日特色门诊

近日，上海交通大学医学院附属新华医院肛肠外科推出周六、用日全日门诊服务，并在这两天分别开设便秘和大肠癌特色病种门诊。同时进行周日全天的结直肠癌早期筛查、诊断和随访，率先在国内临床开展遗传性大肠癌基因位点的筛查。近年来，大肠癌的发生率呈现逐年升高的趋势，在上海已升至恶性肿瘤发生率的第二位，早发现早治疗是提高肿瘤病人生存率的根本方法。