Department of Urology and Paris 7 University, APHP, Saint-Louis Hospital Paris, France ; Department of Biochemistry and Paris 7 University, APHP, Saint-Louis Hospital Paris, France ; Department of Pathology and Paris 7 University, APHP, Saint-Louis Hospital Paris, France ; INSERM U944 UMR7212, Paris 7 University Paris, France ; and INSERM U728 - Institut Universitaire d'Hematologe, Paris 7 University Paris, France.
Am J Cancer Res. 2011;1(5):595-603. Epub 2011 Apr 5.
We aimed to identify interesting deleted chromosomal regions for bladder cancer diagnosis and carcinogenesis, and to evaluate the association between loss of heterozygosity (LOH) and clinico-pathological parameters. Microsatellite analysis was performed on urine sediment and tumor tissue from 43 consecutive patients with superficial transitional cell carcinoma (TCC) and from 42 consecutive controls. Informative cases were scored as LOH or allelic loss (AL) according to the decrease of the allelic-imbalance ratio. The prevalence of LOH and AL was 39.5% and 86%, respectively. Chromosome 9 was the most frequently altered, especially at 9p (35%). The total number of microsatellite alterations per analysis was correlated with age, grade, stade and EAU classification. The locus 17p13.1 was strongly associated with high-stage (p=0.01) and high-grade tumors (p=0.02). Specificity and sensitivity of LOH was 100% and 39.3% for diagnosis of malignant urinary disease. Specificity and sensitivity of AL was 73.8% and 88%, respectively. Allelic losses are a frequent and early event in bladder cancer, especially at 9p. Thanks to its high specificity, LOH may serve as a complementary tool for non invasive diagnosis of bladder cancer. Further study is warranted to evaluate the prognostic value of LOH on recurrence, progression and muscle invasion.
我们旨在鉴定膀胱癌诊断和发生的染色体缺失区域，并评估杂合性丢失（LOH）与临床病理参数之间的关系。对 43 例连续的表浅性移行细胞癌（TCC）患者的尿沉渣和肿瘤组织以及 42 例连续的对照者进行微卫星分析。根据等位基因失衡率的降低，将信息性病例评分标记为 LOH 或等位基因丢失（AL）。LOH 和 AL 的发生率分别为 39.5%和 86%。染色体 9 是最常改变的，尤其是 9p（35%）。每次分析的微卫星改变总数与年龄、分级、分期和 EAU 分级相关。17p13.1 位点与高级别（p=0.01）和高级别肿瘤（p=0.02）强烈相关。LOH 诊断恶性泌尿道疾病的特异性和敏感性分别为 100%和 39.3%。AL 的特异性和敏感性分别为 73.8%和 88%。LOH 是膀胱癌中一种常见的早期事件，尤其是在 9p。由于其高特异性，LOH 可作为膀胱癌非侵入性诊断的补充工具。需要进一步研究以评估 LOH 在复发、进展和肌肉侵犯中的预后价值。
