Endometrial Liquid-Based Cytology Specimens Preserve High Genome Quality for Molecular Classification After Long-Term Storage

IF 1 4区医学 Q4 MEDICAL LABORATORY TECHNOLOGY

Diagnostic Cytopathology Pub Date : 2025-08-18 DOI:10.1002/dc.70008

Toshiaki Akahane, Ikumi Kitazono, Seiya Yokoyama, Yuriko Higashi, Hiroaki Kobayashi, Akihide Tanimoto

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引用次数: 0

Abstract

Background

Molecular classification of endometrial cancer is useful for predicting prognosis. Genomic examinations are performed using formalin-fixed paraffin-embedded (FFPE) tissues; however, we previously reported that liquid-based cytology (LBC) specimens can be used for next-generation sequencing (NGS). In this study, we evaluated long-term storage effects of LBC specimens on NGS-based genomic profiling, including gene mutations, tumor mutation burden (TMB), and microsatellite instability (MSI).

Methods

Four LBC fixatives (CellPrep, ThinPrep, CytoRich Red, and SurePath) were used to prepare NGS samples from cultured endometrioid carcinoma HEK-251 cells. Twelve endometrial LBC specimens from patients with endometrioid carcinoma were fixed with CytoRich Red. The TMB, MSI, and gene mutations were analyzed after 1 week, 6 months, and 12 months of storage in cultured HEK-251 cells. Paired LBC and FFPE specimens of endometrioid carcinoma stored for 15–45 months were subjected to NGS-based analysis, and their molecular profiles were compared to those at the initial diagnosis.

Results

The TMB and MSI did not differ during the storage periods for any of the LBC fixatives in the cultured cells; in addition to gene mutations, they were comparable between the initial and second analyses of the clinical FFPE and LBC specimens. There were no changes in the integrative diagnosis of the endometrioid carcinoma subtype classification.

Conclusion

LBC specimens, which preserved high-quality genomes for molecular classification after long-term storage, may be an alternative source of genomic examination for the integrative diagnosis of endometrial cancer.

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子宫内膜液细胞学标本在长期保存后可保持高基因组质量用于分子分类。

背景：子宫内膜癌的分子分型有助于预测预后。使用福尔马林固定石蜡包埋（FFPE）组织进行基因组检查；然而，我们之前报道了液体细胞学（LBC）标本可用于下一代测序（NGS）。在这项研究中，我们评估了LBC标本的长期储存对基于ngs的基因组分析的影响，包括基因突变、肿瘤突变负担（TMB）和微卫星不稳定性（MSI）。方法：采用4种LBC固定剂（CellPrep、ThinPrep、CytoRich Red、SurePath）制备子宫内膜样癌HEK-251细胞的NGS样品。采用CytoRich Red对12例子宫内膜样癌患者的子宫内膜LBC标本进行固定。在培养的HEK-251细胞中保存1周、6个月和12个月后分析TMB、MSI和基因突变。对保存15-45个月的子宫内膜样癌LBC和FFPE配对标本进行ngs分析，并将其分子谱与初次诊断时的分子谱进行比较。结果：不同LBC固定剂在培养细胞中保存期间，TMB和MSI均无差异；除了基因突变外，它们在临床FFPE和LBC标本的初始和第二次分析之间具有可比性。子宫内膜样癌亚型分类的综合诊断没有变化。结论：LBC标本在长期保存后保存了高质量的基因组用于分子分类，可能是子宫内膜癌综合诊断的另一种基因组检查来源。

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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来源期刊

Diagnostic Cytopathology 医学-病理学

CiteScore

2.60

自引率

7.70%

发文量

163

审稿时长

3-6 weeks

期刊介绍： Diagnostic Cytopathology is intended to provide a forum for the exchange of information in the field of cytopathology, with special emphasis on the practical, clinical aspects of the discipline. The editors invite original scientific articles, as well as special review articles, feature articles, and letters to the editor, from laboratory professionals engaged in the practice of cytopathology. Manuscripts are accepted for publication on the basis of scientific merit, practical significance, and suitability for publication in a journal dedicated to this discipline. Original articles can be considered only with the understanding that they have never been published before and that they have not been submitted for simultaneous review to another publication.