上尿道泌尿管癌的嵌套和大型嵌套亚型:一个多机构研究
Manju Aron1, Darshan S Chandrashekar2, Sofia Canete-Portillo2
1Department of Pathology, Keck School of Medicine, University of Southern California, Los Angeles, California; Department of Urology, Keck School of Medicine, University of Southern California, Los Angeles, California.
概括
这项研究分析了罕见的上泌尿道瘤,嵌入性尿癌 (NUC) 和大型嵌入性尿癌 (LNUC). LNUC显示出更好的结果和特定的基因突变,如PIK3CA,提供潜在的治疗点.
科学领域:
- 尿瘤学 尿瘤学
- 生殖尿路病理学
- 癌症基因组学 癌症基因组学
背景情况:
- 尿道上部的嵌套尿癌 (NUC) 和大型嵌套尿癌 (LNUC) 是罕见的,临床病理学和分子数据有限.
- 现有的知识差距阻碍了对这些不常见的瘤的理解和治疗策略.
研究的目的:
- 调查NUC和LNUC的临床病理特征和分子格局.
- 确定这些罕见的上道泌尿道癌的潜在治疗标和预后标记.
主要方法:
- 来自7个机构的17个NUC和LNUC切除标本的回顾性分析.
- 整体外体和RNA测序,体突变分析,瘤突变负担 (TMB) 和微卫星不稳定性 (MSI) 评估.
- 基于癌症基因组图谱 (TCGA) 膀癌分类的差异基因表达分析和分子亚型化.
主要成果:
- 无论是NUC还是LNUC都主要影响老年男性,均为单焦性,并且经常与常规泌尿腺癌混合.
- 在LNUC中,显著改善了临床结果,并显示了较高的覆盖低度 papillary urothelial carcinoma的发生率.
- 在LNUC中,FGFR3和PIK3CA的致病突变更频繁,而PIK3CA突变仅限于LNUC. 所有病例都是微卫星稳定的,低TMB.
结论:
- 这项研究代表了NUC和LNUC最大的队列,扩大了对其临床病理学谱的理解.
- 分子分析揭示了LNUC中明显的遗传变化,特别是PIK3CA突变,这表明了潜在的治疗途径.
- 鉴定到的基因变异具有预后价值,需要进一步研究上道泌尿道癌的向治疗方法.
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