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下一代测序在挑战小/平面泌尿道病变时具有诊断效用

Amélie Pinard¹, Constance Chen¹, Jessica Van Ziffle¹

¹University of California, San Francisco, Department of Pathology, 1825 4th Street, San Francisco, CA, USA.

Annals of diagnostic pathology

|August 24, 2024

概括

下一代测序 (NGS) 可以准确地诊断小尿病变,即使具有有限的组织. 这种分子测试有助于病理学家和瘤学家区分反应性变化和尿癌 (UCa).

科学领域:

泌尿器科泌尿器科泌尿器科泌尿器科
在瘤学瘤学.
分子病理学分子病理学

背景情况:

区分小/平的泌尿道病变是临床上具有挑战性的.
目前的免疫组织化学方法往往缺乏可靠性,以区分反应性病变与尿路细胞癌 (UCa).
尿癌具有独特的分子形状,但小样本排除了传统的下一代测序 (NGS).

研究的目的:

评估基于DNA的综合性NGS对小/平面泌尿道病变的有用性.
在瘤含量和DNA产量有限的病例中评估NGS的性能.
为了确定NGS是否可以帮助诊断具有挑战性的泌尿道病变.

主要方法:

利用基于DNA的NGS对13个小/平面泌尿道病变.
样本包括最初被诊断为尿性异常或尿癌 in situ (uCIS) 的病变.
采用了宏观剖析 (取,冲孔活检,取);评估了DNA数量和目标覆盖范围.

主要成果:

在所有7种非典型病变中,NGS确定了与尿路癌相容的突变.
在所有6个uCIS案例中,NGS结果与UCA一致.
在某些情况下,尽管瘤含量低,DNA产量低,但仍获得了可解释的结果.

结论:

基于DNA的综合性NGS是诊断小/平面泌尿道病变的宝贵工具.
即使样本数量有限且DNA产量低,NGS也可以提供可解释的结果.
这种分子方法有助于区分良性和恶性尿状况,支持临床决策.

关键词:

辅助测试辅助测试辅助测试辅助测试在CIS中,CIS是CIS.没有NGS,没有NGS.泌尿器的异型性异型.尿路细胞癌是什么意思

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