Background: Radiographic surveillance of colorectal cancer (CRC) after curative-intent therapy is costly and unreliable. Methylated DNA markers (MDMs) detected primary CRC and metastatic recurrence with high sensitivity and specificity in cross-sectional studies. This study evaluated using serial MDMs to detect recurrence and monitor the treatment response to anti-cancer therapies. Methods: A nested case-control study was drawn from a prospective cohort of patients with CRC who completed curative-intent therapy for CRC of all stages. Plasma MDMs were assayed vis target enrichment long-probe quantitative-amplified signal assays, normalized toB3GALT6, and analyzed in combination with serum carcinoembryonic antigen to yield an MDM score. Clinical information, including treatment and radiographic measurements of the tumor burden, were longitudinally collected. Results: Of the 35 patients, 18 had recurrence and 17 had no evidence of disease during the study period. The MDM score was positive in 16 out of 18 patients who recurred and only 2 of the 17 patients without recurrence. The MDM score detected recurrence in 12 patients preceding clinical or radiographic detection of recurrent CRC by a median of 106 days (range 90–232 days). Conclusions: Plasma MDMs can detect recurrent CRC prior to radiographic detection; this tumor-agnostic liquid biopsy approach may assist cancer surveillance and monitoring.
背景：结直肠癌（CRC）根治性治疗后进行影像学监测成本高昂且可靠性不足。横断面研究表明，甲基化DNA标志物（MDMs）在检测原发性CRC及转移性复发方面具有高敏感性和特异性。本研究旨在评估通过连续检测MDMs来监测复发及评估抗癌治疗反应的效果。方法：本研究采用巢式病例对照设计，研究对象来源于一项前瞻性队列，该队列纳入了已完成各分期CRC根治性治疗的患者。通过靶向富集长探针定量扩增信号法检测血浆MDMs，以B3GALT6为内参进行标准化，并结合血清癌胚抗原分析得出MDM评分。研究纵向收集了包括治疗方案和肿瘤负荷影像学测量在内的临床信息。结果：在35例患者中，18例出现复发，17例在研究期间无疾病证据。18例复发患者中有16例MDM评分呈阳性，而17例未复发患者中仅有2例呈阳性。MDM评分在12例患者中检测到复发，其检测时间早于临床或影像学发现CRC复发，中位提前时间为106天（范围90-232天）。结论：血浆MDMs可在影像学检测之前发现CRC复发；这种与肿瘤类型无关的液体活检方法可能有助于癌症的监测与随访。
肿瘤(癌症)患者之家