尿液活检癌突变检测的重复性：样本越多越好

IF 2.4 3区医学 Q3 ONCOLOGY

Urologic Oncology-seminars and Original Investigations Pub Date : 2025-03-01 DOI:10.1016/j.urolonc.2024.12.042

Michael Forster, Maryna Gozhenko, Rebekka Kraemer, Marc Höppner, Tim A. Steiert, Xiaoli Yi, Nicole Braun, Anja Tanck, Mona Elhadidi, Reza Mehrazin, Pamela Pinzani, Stefania Gelmini, Philipp Nuhn, Andre Franke Andre Franke, Ahmed Eraky

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引用次数: 0

摘要

单个尿液样本是尿路上皮肿瘤细胞学检查的标准。尿液中尿路上皮癌突变的检测是一个新兴的研究领域，但目前没有基于证据的采样时间或频率标准。我们的主要目的是研究膀胱癌患者尿液样本中尿路上皮癌突变的可重复性。我们的第二个目标是为未来的诊断研究完善膀胱癌相关基因组。方法对39例膀胱癌患者的尿液样本进行127基因测序。使用Wilcoxon符号秩和检验比较来自同一患者的一个尿液样本与多个样本的突变存在。对于小组改进，如果基因在我们的队列中至少三名患者中发生突变并经文献证实，则考虑基因。结果单个尿样中存在体细胞突变与多个尿样相比是不完整的（V=120, p=.0005843）。我们精细化的32个基因使所有39例患者（100%）能够检测到膀胱癌相关突变。变异的景观与文学是一致的。结论由于生理或生理原因，大多数膀胱癌患者需要多份尿液样本才能发现突变情况。我们的32个精细化基因集可能足以用于膀胱癌相关突变检测，即使是在单个样本中。基于尿液的突变检测对于膀胱癌的诊断和治疗是有希望的，特别是当使用多个尿液样本时。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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REPEATABILITY OF CANCER MUTATION DETECTION IN URINE LIQUID BIOPSY: MORE SAMPLES ARE BETTER

Introduction

Single urine samples are the standard for cytology examination of urothelial tumors. The detection of urothelial cancer mutations in urine is an emerging research field, but there is currently no evidence-based standard for the timing or frequency of sampling. Our primary objective was to investigate the repeatability of urothelial cancer mutations in urine samples of bladder cancer patients. Our secondary objective was to refine a panel of bladder cancer-associated genes for future diagnostic research.

Methods

Urine samples from 39 bladder cancer patients were sequenced using a 127-gene panel. The Wilcoxon signed rank sum test was used to compare one urine sample versus multiple samples from the same patient with respect to mutation presence. For panel refinement, genes were considered if they were mutated in at least three patients of our cohort and confirmed by literature.

Results

Somatic mutation presence in a single urine sample is incomplete compared to several samples (V=120, p=.0005843). Our refined set of 32 genes enabled bladder cancer- associated mutation detection in all 39 patients (100%). The mutational landscape was congruent with literature.

Conclusions

More than one urine sample is needed to discover the mutational landscape in most bladder cancer patients, speculatively due to physiological or circadian reasons. Our refined set of 32 genes is probably sufficient for bladder cancer-associated mutation detection, even in a single sample. Urine-based mutation detection is promising for bladder cancer diagnostics and management, especially when multiple urine samples are used.

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来源期刊

Urologic Oncology-seminars and Original Investigations 医学-泌尿学与肾脏学

CiteScore

4.80

自引率

3.70%

发文量

297

审稿时长

7.6 weeks

期刊介绍： Urologic Oncology: Seminars and Original Investigations is the official journal of the Society of Urologic Oncology. The journal publishes practical, timely, and relevant clinical and basic science research articles which address any aspect of urologic oncology. Each issue comprises original research, news and topics, survey articles providing short commentaries on other important articles in the urologic oncology literature, and reviews including an in-depth Seminar examining a specific clinical dilemma. The journal periodically publishes supplement issues devoted to areas of current interest to the urologic oncology community. Articles published are of interest to researchers and the clinicians involved in the practice of urologic oncology including urologists, oncologists, and radiologists.