The detection of circulating cell-free DNA (cfDNA) by liquid biopsy is reported to provide prognostic information in colorectal cancer (CRC). Although the frequency of BRAF V600E mutation in CRC is less than 10%, it is associated with poor responses to conventional chemotherapy. We conducted a prospective study to investigate the relationship between the perioperative mutant allele frequency (MAF) of BRAF V600E and tumor recurrence, and to evaluate the possibility of early detection of recurrence. Among 362 patients who underwent radical resection, cfDNA was extracted from the perioperative blood of 11 CRC patients with BRAF V600E mutation and analyzed using the digital polymerase chain reaction (dPCR) system. The median follow-up time was 22 months, and there were four cases of recurrence. Although there was no correlation between recurrence and the perioperative MAF of BRAF V600E, tumor diameter was correlated with the MAF (p = 0.024), and the MAF increased with time in two patients from whom additional samples were obtained prior to recurrence. In this study, we identified a correlation between the pathological tumor diameter and the MAF, but it was difficult to predict recurrence by measuring cfDNA with BRAF V600E mutation in the perioperative period of radical resection of CRC.

据报道，通过液体活检检测循环游离 DNA (cfDNA) 可提供结直肠癌 (CRC) 的预后信息。尽管CRC中BRAF V600E 突变的频率低于 10%，但它与对常规化疗的不良反应有关。我们进行了一项前瞻性研究，以研究BRAF V600E围手术期突变等位基因频率 (MAF)与肿瘤复发之间的关系，并评估早期发现复发的可能性。在接受根治性切除术的 362 名患者中，从 11 名BRAF CRC 患者的围手术期血液中提取了 cfDNAV600E 突变并使用数字聚合酶链反应 (dPCR) 系统进行分析。中位随访时间为22个月，有4例复发。尽管复发与BRAF V600E的围手术期 MAF 之间没有相关性，但肿瘤直径与 MAF 相关（p = 0.024），并且在复发前从其中获得额外样本的两名患者中，MAF 随时间增加。在本研究中，我们确定了病理肿瘤直径与 MAF 之间的相关性，但在 CRC 根治性切除术的围手术期测量具有BRAF V600E 突变的cfDNA 难以预测复发。