Papayanis Philip N, Au Cherry, Jelinek Michael, Tan Alan
Internal Medicine, Rush University Medical Center, Chicago, IL, USA.
Hematology, Oncology and Cellular Therapy, Rush University Medical Center, Chicago, IL, USA.
BMJ Case Rep. 2025 May 26;18(5):e264469. doi: 10.1136/bcr-2024-264469.
Liquid biopsies using circulating tumour DNA (ctDNA) have emerged as an alternative to conventional biopsies. They can be used to aid in diagnosing and selecting an agent for treatment and can possibly be used to monitor disease response to treatment. In this report, we present a patient who initially presented with lower abdominal pain. Imaging showed extensive retroperitoneal lymphadenopathy and lymph node biopsy demonstrated poorly differentiated carcinoma. Further workup did not reveal a primary lesion, but his genetic analysis revealed a BRAF V600E mutation and CD274 amplification which was used to guide treatment of the adenocarcinoma as a melanoma of unknown primary. He was initiated on ipilimumab and nivolumab and his ctDNA levels showed rapid improvement. After treatment was stopped due to adverse events, he was monitored via ctDNA, with an increase prompting repeat imaging that demonstrated enlargement of his lesions prompting a resumption of treatment.
使用循环肿瘤DNA（ctDNA）的液体活检已成为传统活检的一种替代方法。它们可用于辅助诊断和选择治疗药物，还可能用于监测疾病对治疗的反应。在本报告中，我们介绍了一名最初表现为下腹部疼痛的患者。影像学检查显示广泛的腹膜后淋巴结病，淋巴结活检显示为低分化癌。进一步检查未发现原发灶，但他的基因分析显示存在BRAF V600E突变和CD274扩增，这被用于将腺癌作为原发灶不明的黑色素瘤进行治疗指导。他开始使用伊匹单抗和纳武单抗治疗，其ctDNA水平显示迅速改善。由于不良事件停止治疗后，通过ctDNA对他进行监测，ctDNA水平升高促使重复进行影像学检查，结果显示病灶增大，促使恢复治疗。
