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使用Oncomine Colon cfDNA检测的前体病变和结直肠癌的血突变特征

Mariana Bisarro Dos Reis¹, Wellington Dos Santos¹, Ana Carolina de Carvalho¹

¹Molecular Oncology Research Center, Barretos Cancer Hospital, Barretos, SP, Brazil.

|December 18, 2024

概括

通过液体活检检测无细胞瘤DNA (cfDNA) 中的遗传变异,显示了早期结直肠癌 (CRC) 查的前景. 这种非侵入性方法在60%的CRC患者和25%的前体病变中发现了突变.

科学领域:

在瘤学瘤学.
遗传学是一个遗传学.
分子诊断学分子诊断

背景情况:

结肠直肠癌 (CRC) 是全球癌症死亡的主要原因.
早期发现前体病变和早期CRC显著提高了生存率.
液体活检,分析血液中的瘤生物标志物,提供了一个有前途的非侵入性查方法.

研究的目的:

评估Oncomine结肠cfDNA测试对检测遗传变异的有用性.
评估CRC和前体病变患者的血细胞自由DNA (cfDNA) 中存在的变异.

主要方法:

来自52名巴西患者的血cfDNA样本使用下一代测序 (NGS) 进行了分析.
在14个CRC相关基因的突变概况上使用了Oncomine Colon cfDNA Assay.
患者组包括健康的个人,那些有前体病变 (腺瘤,状病变) 和CRC患者.

主要成果:

在八个基因 (TP53,KRAS,APC等) 中检测到33种致病变体. 在患者样本中.
该试验在60%的CRC患者和25%的前体病变病例中检测到至少一种致病变体.
对CRC检测的敏感度为60%,具有100%的特异性;对于晚期病变的敏感度为50%,具有100%的特异性.

结论:

基于等离子体的NGS突变检测可以帮助进行结直肠癌的非侵入性查和诊断.
这种方法有可能用于早期识别CRC或高风险前体病变的个体.

关键词:

结肠直肠癌是一种癌症.液体活检液体活检没有NGS,没有NGS.在等离子体中,我们可以得到等离子体.前身病变的前身病变是什么查检查查检查查检查

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