循环细胞游离DNA在B细胞肿瘤中的研究进展

Progress of circulating cell-free DNA in B-cell neoplasms

循环细胞游离DNA（cfDNA）是存在于循环血液中的游离DNA，包括来源于肿瘤细胞的DNA即循环肿瘤DNA（ctDNA）和正常组织细胞DNA。ctDNA是cfDNA中具有特异性的肿瘤DNA，cfDNA一定程度上可以反映肿瘤的状态，在肿瘤诊断、病情监测、疗效评估、预后和复发判断中具有重要作用，并且其作为一种简单有效的非侵入性＂液体活组织检查＂技术，具有潜在的临床应用价值。cfDNA分析作为一种新兴理念在B细胞肿瘤方面的研究报道逐渐增多，主要为通过cfDNA测序技术检测肿瘤特异基因突变、甲基化改变及微小残留病与疾病预后、复发、疗效监测和靶向治疗的关系。

Circulating cell-free DNA （cfDNA） is a kind of free DNA in circulating blood, including circulating tumor DNA （ctDNA） deriving from tumor cells and DNA deriving from normal tissue cells. CtDNA is a specific tumor DNA in cfDNA. CfDNA could reflect the status of tumor to a certain extent, which plays an important role in tumor diagnosis, disease monitoring, treatment evaluation, prognosis and recurrence judgement, and has a potential clinical value as a simple, effective and noninvasive ＂liquid biopsy＂ technology. As a new concept, the number of cfDNA analysis in B-cell tumors is increasing, such as the relationship between tumor-specific gene mutations, methylation changes, minimal residual disease （MRD） and prognosis, recurrence, monitoring of treatment effects, targeted therapy by using cfDNA sequencing technology.