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Detection of the MYD88L265P and CXCR4S338X mutations by cell-free DNA in Waldenström macroglobulinemia.
Annals of Hematology ( IF 3.0 ) Pub Date : 2020-06-23 , DOI: 10.1007/s00277-020-04139-7
Yan-Yan Wu 1 , Ming-Nan Jia 1 , Hao Cai 1 , Yu Qiu 1 , Dao-Bin Zhou 1 , Jian Li 1 , Xin-Xin Cao 1
Affiliation  

We aimed to detect the MYD88L265P and CXCR4S338X mutations in cell-free DNA (cfDNA) in patients with Waldenström macroglobulinemia (WM). We collected peripheral blood and paired bone marrow aspirates from 27 WM patients (including 16 patients with newly diagnosed WM, 3 patients with WM in relapse and 8 patients with WM during treatment). cfDNA was extracted from peripheral blood using a QIAamp Circulating Nucleic Acid Kit. The MYD88L265P and CXCR4S338X mutations were detected by real-time allele-specific PCR (AS-PCR) in cfDNA and genomic DNA (gDNA) extracted from bone marrow aspirates. The sensitivity of real-time AS-PCR for detecting MYD88L265P in cfDNA was determined using a serial dilution of 10%, 2%, 0.4% and 0.08% MYD88L265P cfDNA in wild-type cfDNA. Among the 27 patients, MYD88L265P was detected in 88.9% of them in gDNA and in 85.2% of them in cfDNA, with a concordance rate of 96.3%. The concordance rates were 93.8%, 100% and 100% in patients with newly diagnosed WM, patients with WM in relapse and patients with WM during treatment, respectively. The sensitivity of real-time AS-PCR for detecting MYD88L265P in cfDNA was 0.4%. CXCR4S338X was detected in 6.3% of the 16 newly diagnosed WM patients in both gDNA and cfDNA, with a concordance rate of 100.0%. It is feasible to apply cfDNA to detect MYD88L265P and CXCR4S338X in WM patients with a high concordance rate.



中文翻译:

Waldenström巨球蛋白血症中无细胞DNA检测MYD88L265P和CXCR4S338X突变。

我们旨在检测Waldenström巨球蛋白血症(WM)患者无细胞DNA(cfDNA)中的MYD88 L265P和CXCR4 S338X突变。我们从27名WM患者(包括16名新诊断的WM患者,3例复发的WM患者和8例治疗期间的WM患者)中收集了外周血和成对的骨髓抽吸物。使用QIAamp循环核酸试剂盒从外周血中提取cfDNA。通过实时等位基因特异性PCR(AS-PCR)在cfDNA和从骨髓穿刺物中提取的基因组DNA(gDNA)中检测到MYD88 L265P和CXCR4 S338X突变。实时AS-PCR检测MYD88 L265P的敏感性使用在野生型cfDNA中的10%,2%,0.4%和0.08%MYD88 L265P cfDNA的系列稀释液确定cfDNA中的cDNA含量。在27例患者中,在gDNA中检出MYD88 L265P的比例为88.9%,在cfDNA中检出MYD88 L265P的比例为96.3%。新诊断的WM患者,复发性WM患者和治疗期间WM患者的一致性率分别为93.8%,100%和100%。实时AS-PCR检测cfDNA中MYD88 L265P的敏感性为0.4%。在16名新诊断的WM患者中,在gDNA和cfDNA中均检测到6.3%的CXCR4 S338X,一致性率为100.0%。应用cfDNA检测MYD88 L265P和CXCR4 S338X是可行的 在具有较高一致性率的WM患者中。

更新日期:2020-06-24
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