@article{3034041,
    title = "Determination of MYD88(L265P) mutation fraction in IgM monoclonal
gammopathies",
    author = "Bagratuni, Tina and Markou, Athina and Patseas, Dimitrios and and Mavrianou-Koutsoukou, Nefeli and Aktypi, Foteini and Liacos, Christine and Ivy and Sklirou, Aimilia D. and Theodorakakou, Foteini and and Ntanasis-Stathopoulos, Ioannis and Gavriatopoulou, Maria and Trougakos, and Ioannis P. and Lianidou, Evi and Terpos, Evangelos and Kastritis, and Efstathios and Dimopoulos, Meletios A.",
    journal = "Blood advances",
    year = "2022",
    volume = "6",
    number = "1",
    pages = "189-199",
    publisher = "Elsevier",
    doi = "10.1182/bloodadvances.2021005354",
    abstract = "We describe a novel method for the detection of MYD88(L265P) mutation
using a competitive allele-specific polymerase chain reaction (Cast-PCR)
assay. This assay has a sensitivity of 1 x 10(-3), is applicable in
reactions containing very low amounts of DNA (as low as 20 pg), and
allowed the detection of MYD88(L265P) somatic mutation in both
tumor-derived DNA (tDNA) and cell-free DNA (cfDNA). In addition, using
the Cast-PCR assay, we were able to determine the mutation allele
fraction (MAF) in each tested sample. We then analyzed baseline tDNA and
cfDNA samples from 163 patients (53 with immunoglobulin M monoclonal
gammopathy of undetermined significance and 110 with Waldenstro euro m’s
macroglobulinemia [WM], of whom 54 were asymptomatic and 56 were
symptomatic) and also in sequential samples of 37 patients. MAF in both
cfDNA and tDNA was higher among patients with symptomatic compared with
asymptomatic WM and in those with asymptomatic WM compared with those
with immunoglobulin M (IgM) monoclonal gammopathy of undetermined
significance. In addition, the evaluation of sequential samples showed
that MAF decreased after treatment, whereas it increased in patients who
relapsed or progressed to symptomatic WM. Thus, Cast-PCR is a highly
sensitive, cost-effective diagnostic tool for MYD88(L265P) detection,
applicable in both tDNA and cfDNA samples, that also provides a
quantitative evaluation of the tumor load in patients with IgM
monoclonal gammopathies."
}