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Detection of chromosomal instability using ultrasensitive chromosomal aneuploidy detection in the diagnosis of precancerous lesions of gastric cancer
Frontiers in Genetics ( IF 3.7 ) Pub Date : 2024-04-09 , DOI: 10.3389/fgene.2024.1359231
Suting Qian , Feifei Xie , Haoyu Zhao , Ting Jiang , Yi Sang , Wei Ye , Qingsheng Liu , Danli Cai

Background:The diagnosis of Precancerous Lesions of Gastric Cancer (PLGC) is challenging in clinical practice. We conducted a clinical study by analyzing the information of relevant chromosome copy number variations (CNV) in the TCGA database followed by the UCAD technique to evaluate the value of Chromosomal Instability (CIN) assay in the diagnosis of PLGC.Methods:Based on the screening of gastric cancer related data in TCGA database, CNV analysis was performed to explore the information of chromosome CNV related to gastric cancer. Based on the gastroscopic pathology results, 12 specimens of patients with severe atrophy were screened to analyze the paraffin specimens of gastric mucosa by UCAD technology, and to explore the influence of related factors on them.Results:The results of CNV in TCGA database suggested that chromosome 7, 8, and 17 amplification was obvious in patients with gastric cancer. UCAD results confirmed that in 12 patients with pathologic diagnosis of severe atrophy, five of them had positive results of CIN, with a positive detection rate of 41.7%, which was mainly manifested in chromosome seven and chromosome eight segments amplification. We also found that intestinalization and HP infection were less associated with CIN. And the sensitivity of CIN measurement results was significantly better than that of tumor indicators.Conclusion:The findings suggest that the diagnosis of PLGC can be aided by UCAD detection of CIN, of which Chr7 and 8 may be closely related to PLGC.

中文翻译:

超灵敏染色体非整倍体检测染色体不稳定性在胃癌癌前病变诊断中的应用

背景:胃癌癌前病变(PLGC)的诊断在临床实践中具有挑战性。我们通过分析TCGA数据库中相关染色体拷贝数变异(CNV)信息并采用UCAD技术进行临床研究,评估染色体不稳定性(CIN)检测在PLGC诊断中的价值。方法:基于筛查对TCGA数据库中胃癌相关数据进行CNV分析,探讨与胃癌相关的染色体CNV信息。根据胃镜病理结果,筛选12例严重萎缩患者标本,采用UCAD技术对胃黏膜石蜡标本进行分析,探讨相关因素对其的影响。结果:TCGA数据库中CNV结果提示:胃癌患者7、8、17号染色​​体扩增明显。 UCAD结果证实,12例病理诊断为重度萎缩的患者中,有5例CIN结果阳性,阳性检出率为41.7%,主要表现为七号染色体和八号染色体片段扩增。我们还发现肠化和 HP 感染与 CIN 的相关性较小。并且CIN测量结果的敏感性明显优于肿瘤指标。结论:研究结果提示UCAD检测CIN可以辅助PLGC的诊断,其中Chr7和8可能与PLGC密切相关。
更新日期:2024-04-09
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