Although cell-free DNA (cfDNA) tests have emerged as a potential non-invasive alterative for bone marrow biopsies in monitoring of clonal hematopoiesis (CH) in hematologic diseases, whether commercial cfDNA assays can be implemented for de novo CH detection and quantification in place of blood cells is uncertain. In this study, peripheral plasma cfDNA samples available from patients with aplastic anemia (AA; n=25), myelodysplastic syndrome (MDS; n=27) and a healthy cohort (n=107) were screened for somatic variants in genes related to hematologic malignancies using a Clinical Laboratory Improvement Amendments-certified panel. Results were further compared to DNA sequencing of matched blood cells. In reported results, 85% of healthy subjects, 36% of AA patients and 74% of MDS patients were found to have somatic cfDNA variants, most frequently in DNMT3A, TET2, ASXL1 and SF3B1. However, concordance between cfDNA and blood cells was poor for CH detection when variants were at variant allele frequency.

中文翻译：

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利用血浆游离 DNA 进行克隆造血的从头检测和定量。


尽管无细胞 DNA (cfDNA) 检测已成为骨髓活检的潜在非侵入性替代方法，用于监测血液系统疾病中的克隆造血 (CH)，但商业 cfDNA 检测是否可以用于从头 CH 检测和定量血细胞的数量不确定。在这项研究中，对再生障碍性贫血 (AA; n=25)、骨髓增生异常综合征 (MDS; n=27) 和健康队列 (n=107) 患者的外周血浆 cfDNA 样本进行了筛查，以检测与血液学相关的基因的体细胞变异。使用临床实验室改进修正案认证的小组来治疗恶性肿瘤。结果进一步与匹配血细胞的 DNA 测序进行比较。在报告的结果中，85%的健康受试者、36%的AA患者和74%的MDS患者被发现存在体细胞cfDNA变异，最常见的是DNMT3A、TET2、ASXL1和SF3B1。然而，当变异处于变异等位基因频率时，cfDNA 和血细胞之间的一致性对于 CH 检测来说很差。