低覆盖全基因组测序技术在结直肠腺瘤风险分层中的应用
Guo Zhili1, Xue Yuyue1, Yu Fang1
1Jiaxing Hospital of Traditional Chinese Medicine, Jiaxing University, Jiaxing, Zhejiang, China.
Frontiers in oncology
|September 8, 2025
概括
在结直肠腺瘤样本中使用UCAD检测染色体不稳定性 (CIN) 有助于诊断. CIN阳性因亚型而异,状腺瘤的发病率较高,表明CIN阳性.
科学领域:
- 在瘤学瘤学.
- 遗传学 是一个遗传学.
- 病理学 病理学 病理学
背景情况:
- 诊断癌前结直肠癌 (CRC) 病变在临床上具有挑战性.
- 染色体复制数变异 (CNVs) 和染色体不稳定性 (CIN) 涉及到CRC的发展.
研究的目的:
- 评估UCAD (基于超声波的染色体异常检测) 在结直肠腺瘤 (CRAs) 中识别CIN的实用性.
- 为了将CIN检测与不同类型的CRA病理亚型相关联.
主要方法:
- 用甲固定,嵌 (FFPE) 的结直肠腺瘤标本 (管状腺瘤,状腺瘤,管状-状腺瘤) 的分析.
- 利用UCAD技术检测染色体复制数变异 (CNVs) 并评估染色体不稳定性 (CIN).
- 与病理亚型和疾病进展相关联的UCAD发现.
主要成果:
- 在30.76%的管状腺瘤,75%的状腺瘤和50%的管状-状腺瘤中检测到CIN阳性.
- 特定的染色体放大 (例如,13q,7,8) 和损失 (例如,18q,14q) 与CIN相关.
- 在不同的结直肠腺瘤病理亚型中,CIN阳性率有显著的差异.
结论:
- 基于UCAD的CIN检测是诊断结直肠腺瘤 (CRAs) 的一个有价值的工具.
- 在CRA中,CIN评估与病理亚型和疾病进展相关.
- 染色体7和8的异常可能与结直肠腺瘤 (PLCRA) 的癌前病变密切相关.
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Genes usually encode proteins necessary for the proper functioning of a healthy cell. Mutations can often cause changes to the gene expression pattern, thereby altering the phenotype.
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