文章：

通过游离DNA高通量靶向测序对弥漫性大B细胞淋巴瘤进行无创监测：一项前瞻性队列研究

Non-invasive monitoring of diffuse large B-cell lymphoma by cell-free DNA high-throughput targeted sequencing: analysis of a prospective cohort

原文发布日期：2018-08-01

DOI: 10.1038/s41408-018-0111-6

类型: Article

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英文摘要：

From a liquid biopsy, cell-free DNA (cfDNA) can provide information regarding basal tumoral genetic patterns and changes upon treatment. In a prospective cohort of 30 diffuse large B-cell lymphomas (DLBCL), we determined the clinical relevance of cfDNA using targeted next-generation sequencing and its correlation with PET scan imaging at the time of diagnosis and during treatment. Using a dedicated DLBCL panel, mutations were identified at baseline for 19 cfDNAs and profiles were consistent with expected DLBCL patterns. Tumor burden-related clinical and PET scan features (LDH, IPI, and metabolic tumor volume) were significantly correlated with the quantity of tumoral cfDNA. Among the four patients presenting additional mutations in their cfDNAs, three had high metabolic tumor volumes, suggesting that cfDNA more accurately reflects tumor heterogeneity than tissues biopsy itself. Mid-treatment, four patients still had basal mutations in their cfDNAs, including three in partial response according to their Deauville scores. Our study highlights the major interests in liquid biopsy, in particular in the context of bulky tumors where cfDNA allows capturing the entire tumoral mutation profile. Therefore, cfDNA analysis in DLBCL represents a complementary approach to PET scan imaging.

摘要翻译： 

通过液体活检，游离DNA（cfDNA）可提供基础肿瘤基因模式及治疗期间变化的相关信息。在一项包含30例弥漫大B细胞淋巴瘤（DLBCL）的前瞻性队列研究中，我们采用靶向新一代测序技术评估了cfDNA的临床意义，并分析了其与诊断时及治疗期间PET扫描影像学的相关性。使用专用DLBCL检测 panel，在19例患者基线cfDNA中检测到基因突变，其突变谱与预期DLBCL模式一致。肿瘤负荷相关临床指标及PET扫描特征（乳酸脱氢酶、国际预后指数及代谢肿瘤体积）与肿瘤cfDNA含量呈显著相关。在cfDNA中存在额外突变的4例患者中，3例呈现高代谢肿瘤体积，提示cfDNA比组织活检更能准确反映肿瘤异质性。治疗中期，4例患者cfDNA中仍存在基线突变，其中3例根据Deauville评分属于部分缓解。本研究凸显了液体活检的重要价值，尤其在巨块型肿瘤中，cfDNA可完整呈现肿瘤突变谱。因此，在DLBCL中cfDNA分析可作为PET扫描影像学的重要补充手段。

原文链接：

Non-invasive monitoring of diffuse large B-cell lymphoma by cell-free DNA high-throughput targeted sequencing: analysis of a prospective cohort