Shim Hyoeun, Heo Soobeen, Sun Jiyu, Choi Moon Ki, Park Sung Chan, Hong Chang Won, Kim Seong Hoon, Park Seog-Yun, Kong Sun-Young, Baek Ji Yeon
Department of Laboratory Medicine, National Cancer Center, Goyang, Korea.
Targeted Therapy Branch, Research Institute, National Cancer Center, Goyang, Korea.
Ann Lab Med. 2025 Jul 1;45(4):450-458. doi: 10.3343/alm.2024.0598. Epub 2025 Jun 18.
Circulating tumor DNA (ctDNA) profiling from peripheral blood allows relatively noninvasive monitoring of solid tumors; however, its utility post-surgery or chemotherapy in colorectal cancer remains underexplored. We evaluated the clinical implications of a ctDNA next-generation sequencing (NGS) panel post-surgery or chemotherapy in patients with colorectal cancer.
We collected samples from 23 patients with colorectal cancer (17 men, median age 65 yrs) at baseline and post-surgery or chemotherapy at the National Cancer Center, Korea, between January 2021 and September 2023. ctDNA was analyzed using an NGS panel including 46 genes, and variant allele frequencies (VAFs) were determined. Follow-up samples were analyzed using the NGS panel or droplet digital PCR (ddPCR) when probes were available. Clinical status was compared with ctDNA results, and survival was analyzed using a time-dependent Cox model.
Mutations were identified in 13 out of 14 patients (92.8%) with stage II/III cancer and in all nine patients (100%) with stage IV cancer. Mutations were detected in (N=15, 65%), (N=8, 35%), (N=7, 30%), (N=5, 22%), and (N=4, 17%). A 1% increase in and VAFs was associated with 48% and 32% increased mortality risk, respectively. Changes in VAF correlated well with clinical findings.
The detection of and an increase in and VAFs were associated with poor prognosis. ddPCR-based ctDNA monitoring results were comparable to those obtained with the NGS panel. ctDNA monitoring during treatment is clinically informative in managing colorectal cancer.
外周血循环肿瘤DNA（ctDNA）分析可实现对实体瘤的相对非侵入性监测；然而，其在结直肠癌手术后或化疗后的应用仍未得到充分探索。我们评估了结直肠癌患者术后或化疗后ctDNA二代测序（NGS） panel的临床意义。
2021年1月至2023年9月期间，我们在韩国国立癌症中心收集了23例结直肠癌患者（17例男性，中位年龄65岁）的基线样本以及术后或化疗后的样本。使用包含46个基因的NGS panel分析ctDNA，并确定变异等位基因频率（VAF）。当有探针可用时，使用NGS panel或液滴数字PCR（ddPCR）分析随访样本。将临床状态与ctDNA结果进行比较，并使用时间依赖性Cox模型分析生存率。
在14例II/III期癌症患者中的13例（92.8%）以及所有9例IV期癌症患者（100%）中检测到突变。在 （N = 15，65%）、 （N = 8，35%）、 （N = 7，30%）、 （N = 5，22%）和 （N = 4，17%）中检测到突变。 和 VAF增加1%分别与死亡风险增加48%和32%相关。VAF的变化与临床发现密切相关。
和 VAF的检测及增加与预后不良相关。基于ddPCR的ctDNA监测结果与NGS panel获得的结果相当。治疗期间的ctDNA监测在结直肠癌管理中具有临床指导意义。
