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评估一种创新的诊断方法在识别体细胞 ctDNA 中 5%变异体的功效。

Assessing the efficacy of an innovative diagnostic method for identifying 5 % variants in somatic ctDNA.

机构信息

MAGI EUREGIO, 39100 Bolzano, Italy.

MAGI'S LAB, 38068 Rovereto (TN), Italy.

出版信息

Gene. 2024 Nov 30;928:148771. doi: 10.1016/j.gene.2024.148771. Epub 2024 Jul 19.

Abstract

BACKGROUND

Liquid biopsy is considered a complementary and recently also an alternative method to surgical biopsy. It allows for the acquisition of valuable information regarding the potential presence of tumors, particularly through the analysis of circulating tumor DNA (ctDNA). CtDNA is a fraction of circulating free DNA (cfDNA) that can be extracted from various tissues, with blood being the most readily available.

RESULTS

To maximize the yield of plasma separation, specific Streck tubes are recommended for blood collection. The MagPurix CFC DNA Extraction Kit can be used for cfDNA extraction, and the TWIST Library Preparation protocol can be optimized for further analysis. Next-generation sequencing (NGS) can be employed to compare somatic and germline lineages, enabling the identification of somatic variants with a Variant Allele Frequency (VAF) of 5 % or higher, which are absent in the germline lineage.

CONCLUSION

This analysis helps in the assessment of recurrence, analysis, and monitoring of cancer tissue.

摘要

背景

液体活检被认为是一种补充方法,最近也被视为一种替代手术活检的方法。它可以通过分析循环肿瘤 DNA(ctDNA)获取有关肿瘤潜在存在的有价值信息。ctDNA 是循环游离 DNA(cfDNA)的一部分,可以从各种组织中提取,其中血液是最容易获得的。

结果

为了最大限度地提高血浆分离的产量,建议使用专门的 Streck 管进行血液采集。可以使用 MagPurix CFC DNA 提取试剂盒进行 cfDNA 提取,并且可以优化 TWIST 文库制备方案以进行进一步分析。下一代测序(NGS)可用于比较体细胞和种系谱系,从而能够识别种系谱系中不存在的体细胞变体,其变异等位基因频率(VAF)为 5%或更高。

结论

这种分析有助于评估癌症组织的复发、分析和监测。

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