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- Title
Detection of the MYD88<sup>L265P</sup> and CXCR4<sup>S338X</sup> mutations by cell-free DNA in Waldenström macroglobulinemia.
- Authors
Wu, Yan-Yan; Jia, Ming-Nan; Cai, Hao; Qiu, Yu; Zhou, Dao-Bin; Li, Jian; Cao, Xin-Xin
- Abstract
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.
- Subjects
CELL-free DNA; DNA; BONE marrow; NUCLEIC acids
- Publication
Annals of Hematology, 2020, Vol 99, Issue 8, p1763
- ISSN
0939-5555
- Publication type
journal article
- DOI
10.1007/s00277-020-04139-7