文章：

液体活检中无细胞DNA的基因分型：B细胞淋巴瘤诊断及可测量残留病监测的辅助工具

Genetic Profiling of Cell-Free DNA in Liquid Biopsies: A Complementary Tool for the Diagnosis of B-Cell Lymphomas and the Surveillance of Measurable Residual Disease

原文发布日期：8 August 2023

DOI: 10.3390/cancers15164022

类型: Article

开放获取: 是

英文摘要：

Purpose: To assess the potential value of LiqBio as a complementary tool for diagnosis and surveillance of BCL. Methods: This prospective multi-center study included 78 patients (25 follicular lymphomas (FL) and 53 large B-cell lymphomas (LBCL)). We performed next-generation sequencing (NGS) of cfDNA LiqBio and paired gDNA tissue biopsies at diagnosis and compared the mutational statuses. Also, through NGS of LiqBio, we identified MRD biomarkers and compared this novel LiqBio–MRD method with PET/CT in detecting MRD at follow-up. Results: We identified mutations in 71% of LiqBio and 95% of tissue biopsies, and found a correlation between variant allele frequency of somatic mutations. Additionally, we identified mutations in 73% of LiqBio from patients with no available tissue samples or no mutations in them. Regarding the utility of LiqBio–MRD as a dynamic monitoring tool, when compared with the PET/CT method, a lower sensitivity was observed for LiqBio–MRD at 92.3% (vs. 100% for PET/CT), but a higher specificity of 91.3% (vs. 86.9% for PET/CT). Conclusion: Genetic profiling of tumor cfDNA in plasma LiqBio is a complementary tool for BCL diagnosis and MRD surveillance.

摘要翻译： 

目的：评估LiqBio作为BCL诊断与监测辅助工具的潜在价值。方法：这项前瞻性多中心研究纳入了78例患者（25例滤泡性淋巴瘤和53例大B细胞淋巴瘤）。我们在诊断时对cfDNA LiqBio及配对的组织活检gDNA进行了二代测序，并比较突变状态。同时，通过LiqBio的二代测序识别了MRD生物标志物，并在随访期间将这种新型LiqBio-MRD方法与PET/CT在检测MRD方面进行了比较。结果：我们在71%的LiqBio样本和95%的组织活检样本中检测到突变，并发现体细胞突变的变异等位基因频率之间存在相关性。此外，在73%无可用组织样本或组织样本未检出突变的患者中，其LiqBio样本仍检测到突变。关于LiqBio-MRD作为动态监测工具的效用，与PET/CT方法相比，LiqBio-MRD的灵敏度较低（92.3% vs PET/CT的100%），但特异性更高（91.3% vs PET/CT的86.9%）。结论：血浆LiqBio中肿瘤cfDNA的基因谱分析可作为BCL诊断和MRD监测的辅助工具。

原文链接：

Genetic Profiling of Cell-Free DNA in Liquid Biopsies: A Complementary Tool for the Diagnosis of B-Cell Lymphomas and the Surveillance of Measurable Residual Disease