Detection of MYD88 L265P mutation by next-generation deep sequencing in peripheral blood mononuclear cells of Waldenström’s macroglobulinemia and IgM monoclonal gammopathy of undetermined significance

Ayako Nakamura, Chikako Ohwada, Masahiro Takeuchi, Yusuke Takeda, Shokichi Tsukamoto, Naoya Mimura, Oshima-Hasegawa Nagisa, Yasumasa Sugita, Hiroaki Tanaka, Hisashi Wakita, Nobuyuki Aotsuka, Kosei Matsue, Koutaro Yokote, Osamu Ohara, Chiaki Nakaseko and Emiko Sakaida

PLOS ONE, 2019, vol. 14, issue 9, 1-7

Abstract: We investigated the feasibility of using next-generation sequencing (NGS) technique using molecular barcoding technology to detect MYD88 L265P mutation in unselected peripheral blood mononuclear cells (PBMCs) in 52 patients with Waldenström’s macroglobulinemia [1] and 21 patients with IgM-monoclonal gammopathy of undetermined significance (MGUS). The NGS technique successfully detected the MYD88 L265P in unselected PBMCs at a sensitivity of 0.02%, which was ×5 higher than that of AS-PCR. All the results between paired BM and PB samples from 2 IgM MGUS and 4 untreated WM patients matched completely. MYD88 L265P mutation was detected in 14/21 (66.7%), 14/19 (73.7%), and 10/33 (30.3%) with the median mutant allele burden of 0.36% (range, 0.06–2.85%), 0.48% (range, 0.02–32.3%), and 0.16% (range, 0.02–33.8%), in IgM-MGUS, untreated WM, and previously treated WM, respectively. Multiple linear regression analysis identified an absolute peripheral lymphocyte count as the positive predictor of PB mutant allele burden (R2 = 0,72, P

Date: 2019
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Persistent link: https://EconPapers.repec.org/RePEc:plo:pone00:0221941

DOI: 10.1371/journal.pone.0221941

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