Ji Hongyan, Long Xiaolu, Gu Jia, Jin Jin, Mao Xia, Wang Zhiqiong, Ma Heng, Chen Liting
Department of Haematology, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan 430030, China.
FNA Cytology Examining Room, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan 430030, China.
Diagnostics (Basel). 2021 Nov 5;11(11):2055. doi: 10.3390/diagnostics11112055.
Growing evidence now suggests that circulating tumour DNA (ctDNA) has great potential as a non-invasive biomarker for disease monitoring, since ctDNA carries tumour-specific modifications. In particular, monitoring ctDNA has important implications for identifying patients with haematological malignancies at clinical risk of disease progression. We hereby describe three patients with B-cell non-Hodgkin lymphoma and investigate the clinical value of sequential ctDNA profiling for the early detection of tumour relapse. Somatic mutations in diagnostic tumour biopsy samples of these three patients were identified by applying high-throughput next-generation sequencing. Droplet digital PCR probes and primers were designed and tested for each hotspot mutation. Serial ctDNA analysis was subsequently conducted among these three patients. We found that the longitudinal monitoring of plasma ctDNA could predict for at least one month in advance compared with flow cytometry, cytology and conventional imaging modalities. Therefore, our results support liquid biopsy based on ctDNA as a non-invasive complementary modality to other detection methods for detecting early relapse and contribute to more precise management for non-Hodgkin lymphoma patients.
越来越多的证据表明，循环肿瘤DNA（ctDNA）作为一种用于疾病监测的非侵入性生物标志物具有巨大潜力，因为ctDNA携带肿瘤特异性修饰。特别是，监测ctDNA对于识别有疾病进展临床风险的血液系统恶性肿瘤患者具有重要意义。我们在此描述三名B细胞非霍奇金淋巴瘤患者，并研究连续ctDNA分析对于早期检测肿瘤复发的临床价值。通过应用高通量下一代测序确定了这三名患者诊断性肿瘤活检样本中的体细胞突变。针对每个热点突变设计并测试了液滴数字PCR探针和引物。随后对这三名患者进行了连续ctDNA分析。我们发现，与流式细胞术、细胞学和传统成像方式相比，血浆ctDNA的纵向监测可以提前至少一个月进行预测。因此，我们的结果支持基于ctDNA的液体活检作为一种非侵入性的补充方式，用于检测早期复发，并有助于对非霍奇金淋巴瘤患者进行更精确的管理。
