接受酪氨酸激酶抑制剂治疗的胃肠道间质瘤（GIST）患者通过定期计算机断层扫描（CT）扫描进行监测，使患者暴露在累积辐射下。这项探索性研究旨在评估循环肿瘤 DNA (ctDNA) 检测，以监测治疗反应，并将 ctDNA 水平的变化与 RECIST 1.1 和总肿瘤体积测量值进行比较。 2014 年至 2021 年间，前瞻性收集了 6 名患有 KIT 原癌基因、受体酪氨酸激酶 (KIT) 外显子 11 突变的 GIST 患者，并前瞻性地收集了他们的长期血浆样本。使用 KIT 外显子 11 数字液滴 PCR 滴落测定法测定相关血浆样本的 ctDNA 水平。使用半自动方法进行肿瘤体积测量。总共分析了 130 个临床相关 ctDNA 样本中的 94 个。治疗成功后，所有患者的 ctDNA 均检测不到。在疾病进展时，六分之五的患者中可检测到 ctDNA。较高水平的 ctDNA 与较大的肿瘤体积相关。与可检测到的 ctDNA 相比，影像学上疾病进展时无法检测到的 ctDNA 与较低的肿瘤体积一致。总之，ctDNA 水平似乎与疾病进展时的总肿瘤体积相关。我们的探索性研究显示了将 ctDNA 检测纳入治疗随访的前景。© 2024 作者。约翰·威利出版的《分子肿瘤学》

Patients with gastro-intestinal stromal tumors (GISTs) undergoing tyrosine kinase inhibitor therapy are monitored with regular computed tomography (CT) scans, exposing patients to cumulative radiation. This exploratory study aimed to evaluate circulating tumor DNA (ctDNA) testing to monitor treatment response and compare changes in ctDNA levels with RECIST 1.1 and total tumor volume measurements. Between 2014 and 2021, six patients with KIT proto-oncogene, receptor tyrosine kinase (KIT) exon-11-mutated GIST from whom long-term plasma samples were collected prospectively were included in the study. ctDNA levels of relevant plasma samples were determined using the KIT exon 11 digital droplet PCR drop-off assay. Tumor volume measurements were performed using a semi-automated approach. In total, 94 of 130 clinically relevant ctDNA samples were analyzed. Upon successful treatment response, ctDNA became undetectable in all patients. At progressive disease, ctDNA was detectable in five out of six patients. Higher levels of ctDNA correlated with larger tumor volumes. Undetectable ctDNA at the time of progressive disease on imaging was consistent with lower tumor volumes compared to those with detectable ctDNA. In summary, ctDNA levels seem to correlate with total tumor volume at the time of progressive disease. Our exploratory study shows promise for including ctDNA testing in treatment follow-up.© 2024 The Authors. Molecular Oncology published by John Wiley & Sons Ltd on behalf of Federation of European Biochemical Societies.