埃及膀胱癌患者的微卫星不稳定性分析：一项初步研究。

Microsatellite instability profiling in Egyptian bladder cancer patients: A pilot study.

机构信息

Molecular Virology and Immunology Unit, Cancer Biology Department, National Cancer Institute, Cairo University, Cairo, Egypt.

Medical Oncology, National Cancer Institute, Cairo University, Cairo, Egypt.

出版信息

Curr Probl Cancer. 2019 Dec;43(6):100472. doi: 10.1016/j.currproblcancer.2019.03.002. Epub 2019 Mar 26.

DOI:10.1016/j.currproblcancer.2019.03.002

PMID:30929752

Abstract

Microsatellite alterations have been implicated in the pathogenesis of many cancers; however, they are still not well addressed in the bladder cancer (BC) of Egyptian population. We assessed microsatellite instability (MSI) profile and loss of heterozygosity (LOH) using 13 microsatellite markers in tumor tissue samples and urine sediments obtained from 30 Egyptian patients with BC. The concordance between MSI in tumor tissue and urine samples was determined, and correlated to relevant clinicopathologic features. We found that MSI was more frequent than LOH (100% and 46.7%, respectively). D16S310, MBP, and IFN-α showed the highest MSI frequency in urine samples (70%, 70%, and 66.67%, respectively), while MBP, ACTBP2, and D9S171 (66.67%, 63.33%, and 60%, respectively) were the most frequently detected in tumor tissues. All assessed MSI markers correlated significantly with pathologic subtype (being more frequent in TCC) and with hematuria. The concordance between tissue and urine samples was statistically significant for D16S476, D9S171, FGA, and ACTBP2 (P = 0.04, 0.015, 0.02, and 0.007, respectively). When we combined D16S476 and D9S171, the sensitivity, specificity, positive predictive value, and negative predictive value for the diagnosis of BC were 80.0%, 75.0%, 82.8%, and 71.4%, respectively. Accordingly, we concluded that MSI in urine sediments could be a potential tool for the diagnosis of BC.

摘要

微卫星改变与许多癌症的发病机制有关；然而，在埃及人群的膀胱癌（BC）中，它们仍未得到很好的解决。我们评估了肿瘤组织样本和 30 例埃及膀胱癌患者尿液沉淀物中的 13 个微卫星标记物的微卫星不稳定性（MSI）谱和杂合性丢失（LOH）。确定了肿瘤组织和尿液样本中的 MSI 一致性，并与相关的临床病理特征相关。我们发现 MSI 比 LOH 更常见（分别为 100%和 46.7%）。D16S310、MBP 和 IFN-α 在尿液样本中的 MSI 频率最高（分别为 70%、70%和 66.67%），而 MBP、ACTBP2 和 D9S171（分别为 66.67%、63.33%和 60%）在肿瘤组织中检测到的频率最高。所有评估的 MSI 标志物与病理亚型（在 TCC 中更常见）和血尿均显著相关。组织和尿液样本之间的一致性在 D16S476、D9S171、FGA 和 ACTBP2 上具有统计学意义（P=0.04、0.015、0.02 和 0.007）。当我们结合使用 D16S476 和 D9S171 时，BC 的诊断灵敏度、特异性、阳性预测值和阴性预测值分别为 80.0%、75.0%、82.8%和 71.4%。因此，我们得出结论，尿液沉淀物中的 MSI 可能是诊断 BC 的潜在工具。