Successful detection of MYD88 L265P mutation in Waldenström's macroglobulinemia complicated with myelofibrosis using highly sensitive digital PCR

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  • NAWATA Ryohei
    Department of Hematology, Japan Community Healthcare Organization (JCHO) Shimonoseki Medical Center
  • SUGIYAMA Akiko
    Department of Hematology, Japan Community Healthcare Organization (JCHO) Shimonoseki Medical Center
  • HARADA Keisuke
    Department of Hematology, Japan Community Healthcare Organization (JCHO) Shimonoseki Medical Center
  • SHINOHARA Kenji
    Department of Medicine, Towa Municipal Hospital
  • YUJIRI Toshiaki
    Department of Clinical Laboratory Sciences, Yamaguchi University Graduate

Bibliographic Information

Other Title
  • 高感度デジタルPCR法でMYD88 L265P変異を検出できた骨髄線維症合併Waldenströmマクログロブリン血症
  • 症例報告 高感度デジタルPCR法でMYD88 L265P変異を検出できた骨髄線維症合併Waldenstromマクログロブリン血症
  • ショウレイ ホウコク コウカンド デジタル PCRホウ デ MYD88 L265P ヘンイ オ ケンシュツ デキタ コツズイ センイショウ ガッペイ Waldenstrom マクログロブリン ケッショウ

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Description

<p>A 78-year-old man with anemia (Hb 9.6 g/dl) and elevated serum immunoglobulin M (IgM 3,577 mg/dl) levels was referred to our hospital. Bone marrow aspiration yielded a dry tap, and bone marrow biopsy revealed the infiltration of CD20 positive lymphoplasmacytic lymphoma cells and myelofibrosis. The patient was diagnosed with Waldenström's macroglobulinemia complicated with myelofibrosis. TGF-β plasma concentration was elevated. Further, after chemotherapy with bendamustine and rituximab, remission of both Waldenström's macroglobulinemia and myelofibrosis was achieved, and TGF-β levels normalized. MYD88 L265P mutation was detected using highly sensitive digital PCR, which compared with currently used direct PCR product sequencing, has a superior sensitivity. The use of digital PCR has additional advantages toward MYD88 L265P detection, particularly when the available amount of sample DNA is limited owing to myelofibrosis.</p>

Journal

  • Rinsho Ketsueki

    Rinsho Ketsueki 60 (8), 903-909, 2019

    The Japanese Society of Hematology

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