胚胎内膜液体基细胞学标本在长期储存后保持高基因组质量以进行分子分类
Toshiaki Akahane1,2, Ikumi Kitazono3, Seiya Yokoyama1
1Department of Pathology, Kagoshima University Graduate School of Medical and Dental Sciences, Kagoshima, Japan.
Diagnostic cytopathology
|August 18, 2025
概括
基于液体的细胞学 (LBC) 标本保持高质量的基因组用于子宫内膜癌分子分类,即使在长期存储后. 这使得LBC成为基因组分析和诊断的可行替代方案.
科学领域:
- 在瘤学瘤学.
- 基因组学就是基因组学.
- 细胞病理学 细胞病理学
背景情况:
- 对子宫内膜癌的分子分类对于预后预测至关重要.
- 嵌入式甲固定 (FFPE) 组织是基因组分析的标准.
- 基于液体的细胞学 (LBC) 标本显示了下一代测序 (NGS) 的潜力.
研究的目的:
- 评估长期储存对LBC标本的影响,以进行基于NGS的基因组分析.
- 在存储的LBC样本中评估基因突变,瘤突变负担 (TMB) 和微卫星不稳定性 (MSI).
- 为了比较从LBC和FFPE标本的基因组概况来诊断子宫内膜癌.
主要方法:
- 使用培养的子宫内膜癌细胞 (HEK-251) 测试了四种LBC固定剂.
- 子宫内膜LBC样本 (n=12) 被存储长达12个月.
- NGS分析比较了LBC和FFPE样本之间的TMB,MSI和基因突变.
主要成果:
- 在培养细胞中,TMB和MSI在储存时间和LBC固定剂中保持稳定.
- 在初始和存储的LBC/FFPE标本之间,基因突变和分子概况是可比的.
- 综合性诊断和子宫内膜癌亚型分类不受储存的影响.
结论:
- 乳腺癌样本保留了高质量的基因组,适合长期对子宫内膜癌的分子分类.
- 在子宫内膜癌的诊断中,LBC为基因组检查提供了一个有希望的替代来源.
- 这种方法支持准确的综合诊断和亚型分类.
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