血清液体积对下一代测序的影响：优化血清样本采集的重要一步。

Q2 Medicine

Journal of the American Society of Cytopathology Pub Date : 2024-11-01 DOI:10.1016/j.jasc.2024.07.001

Shaham Beg MD, Kemin Xu MD, James P. Solomon MD, Susan A. Alperstein CT (ASCP), Momin T. Siddiqui MD

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引用次数: 0

摘要

导言目前的文献缺乏有关浆液容量（SFV）对恶性病例进行的下一代测序（NGS）影响的数据。在本研究中，我们强调了 SFV 及其他参数对 NGS 分析结果的影响。其中 72 份样本进行了 NGS 分析。我们评估了积液量、肿瘤细胞度、DNA 和 RNA 质量指标以及临床病理和分子数据。胸腔积液占所采集积液样本的 56.3%。最常见的原发肿瘤部位是胃肠道/胰胆管，腺癌是最常见的组织学类型。总体平均体积为 293 毫升。进行 NGS 分析的 72 份流出液样本的平均 Qubit DNA 浓度为 14.3 纳克/微升，平均 Qubit RNA 浓度为 28.2 纳克/微升。结果 SFV 与平均肿瘤细胞度之间不存在相关性。此外，74.6%（67 个样本中的 50 个）的测序样本显示了致癌驱动因子；KRAS 是最常见的驱动因子，其次是表皮生长因子受体。3例显示ALK融合，1例显示NTRK1融合。以 100 mL 为临界值的 SFV DNA 得率较高。超过 100 mL 后，SFV 对 DNA 产量没有影响。SFV 不影响 RNA 产量和平均肿瘤细胞度。尽管肿瘤细胞度较低，但仍应提交出液样本进行分子检测。结论作为一项试点研究，我们的结果对于优化 SFV 诊断和 NGS 分析以改善管理非常重要。

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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Impact of serous fluid volume on next-generation sequencing: a significant step forward for optimization of serous fluid sample collection

Introduction

Current literature lacks data regarding the influence of serous fluid volume (SFV) on next-generation sequencing (NGS) performed on malignant cases. In this study, we highlight the impact of SFV and other parameters influencing the outcome of NGS analysis.

Materials and methods

We evaluated 827 samples of serous fluids from 607 patients. Of these, 72 samples underwent NGS analysis. Effusion volume, tumor cellularity, DNA, and RNA quality metrics, as well as clinicopathologic and molecular data were evaluated. Pleural fluid accounted for 56.3% of the fluid samples collected. The most common primary tumor site was gastrointestinal/pancreatobiliary, adenocarcinoma was the most common histologic type. Overall mean volume was 293 mL. The mean Qubit DNA of the 72 effusion samples that underwent NGS analysis was 14.3 ng/μL and mean Qubit RNA was 28.2 ng/μL. The mean Qubit DNA concentration increases in SFV up to 100 mL only.

Results

No correlation exists between SFV and mean tumor cellularity. In addition, 74.6% (50 of 67) of sequenced samples showed oncogenic drivers; KRAS was the most common driver followed by EGFR. Three cases displayed ALK fusions, and 1 case displayed NTRK1 fusion. The DNA yield is higher in SFV of 100 mL as a cutoff. Beyond 100 mL, there is no impact of SFV on DNA yield. SFV does not impact RNA yield and mean tumor cellularity. Effusion samples should be submitted for molecular testing despite low tumor cellularity.