TY - JOUR
TI - Detection of MYD88 and CXCR4 mutations in cell-free DNA of patients with IgM monoclonal gammopathies
AU - Bagratuni, T.
AU - Ntanasis-Stathopoulos, I.
AU - Gavriatopoulou, M.
AU - Mavrianou-Koutsoukou, N.
AU - Liacos, C.
AU - Patseas, D.
AU - Kanellias, N.
AU - Migkou, M.
AU - Ziogas, D.C.
AU - Eleutherakis-Papaiakovou, E.
AU - Roussou, M.
AU - Fotiou, D.
AU - Terpos, E.
AU - Kastritis, E.
AU - Dimopoulos, M.A.
JO - Leukemia Research
PY - 2018
VL - 32
TODO - 12
SP - 2617-2625
PB - Nature Publishing Group
SN - 0145-2126
TODO - 10.1038/s41375-018-0197-7
TODO - cell free DNA;  chemokine receptor CXCR4;  DNA;  myeloid differentiation factor 88;  unclassified drug;  bacterial DNA;  cell free nucleic acid;  chemokine receptor CXCR4;  CXCR4 protein, human;  immunoglobulin M;  MYD88 protein, human;  myeloid differentiation factor 88;  T-DNA, adult;  aged;  Article;  controlled study;  cost effectiveness analysis;  CXCR4 gene;  feasibility study;  gene function;  gene identification;  gene mutation;  genotype;  human;  leukemia relapse;  leukemia remission;  major clinical study;  monoclonal immunoglobulinemia;  mutational analysis;  MYD88 gene;  predictive value;  priority journal;  Waldenstroem macroglobulinemia;  female;  genetics;  male;  middle aged;  mutation;  paraproteinemia;  very elderly;  young adult, Adult;  Aged;  Aged, 80 and over;  Cell-Free Nucleic Acids;  DNA, Bacterial;  Female;  Humans;  Immunoglobulin M;  Male;  Middle Aged;  Mutation;  Myeloid Differentiation Factor 88;  Paraproteinemias;  Receptors, CXCR4;  Waldenstrom Macroglobulinemia;  Young Adult
TODO - Liquid biopsyis being integrated into cancer diagnostics with profound therapeutic implications. However, its role in Waldenström’s Macroglobulinemia (WM) and IgM monoclonal gammopathies is still unclear. In this study, we evaluated the role of peripheral blood (PB) cell-free DNA (cfDNA) in characterizing the mutational status of MYD88 and CXCR4 of patients with IgM monoclonal gammopathies. Paired bone marrow (BM) tumor DNA (tDNA) and PB cfDNA samples from 98 patients (9 MGUS, 45 with WM in remission, 44 with smoldering WM, newly diagnosed or relapsed WM) and 10 controls with non-IgM monoclonal gammopathies were analyzed. Regarding MYD88L265P mutation, 76 patients had paired tDNA and cfDNA informative samples. Among patients with WM in remission, 65% harbored the MYD88L265P mutation, whereas the corresponding percentage among smoldering/newly diagnosed or relapsed WM was 92%. The overall concordance rate was 94% (72/76). For CXCR4 mutations, 65 patients had paired informative tDNA and cfDNA samples. The overall concordance rate was 90% (59/65). All controls had wild-type MYD88 and CXCR4. In conclusion, PB cfDNA is a useful, minimally invasive, cost-effective, and time-effective tool for the identification of the presence of MYD88 and CXCR4 mutations in patients with IgM monoclonal gammopathies avoiding unnecessary BM assessment. © 2018, The Author(s).
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