Relationship between clinical features and somatic gene mutations in myelodysplastic syndrome

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  • HIRASAWA Nobuhiro
    School of Medicine, University of Tsukuba
  • SAKATA-YANAGIMOTO Mamiko
    Department of Hematology, University of Tsukuba Hospital Department of Hematology, Faculty of Medicine, University of Tsukuba
  • NANNYA Yasuhito
    Department of Pathology and Tumor Biology, Graduate School of Medicine, Kyoto University
  • HATTORI Keiichiro
    Department of Hematology, Comprehensive Human Biosciences, University of Tsukuba
  • SUEHARA Yasuhito
    Department of Hematology, Comprehensive Human Biosciences, University of Tsukuba
  • KATO Takayasu
    Department of Hematology, University of Tsukuba Hospital Department of Hematology, Faculty of Medicine, University of Tsukuba
  • YOKOYAMA Yasuhisa
    Department of Hematology, University of Tsukuba Hospital Department of Hematology, Faculty of Medicine, University of Tsukuba
  • KURITA Naoki
    Department of Hematology, University of Tsukuba Hospital Department of Hematology, Faculty of Medicine, University of Tsukuba
  • OBARA Naoshi
    Department of Hematology, University of Tsukuba Hospital Department of Hematology, Faculty of Medicine, University of Tsukuba
  • OGAWA Seishi
    Department of Pathology and Tumor Biology, Graduate School of Medicine, Kyoto University
  • HASEGAWA Yuichi
    Department of Hematology, University of Tsukuba Hospital Department of Hematology, Faculty of Medicine, University of Tsukuba
  • CHIBA Shigeru
    Department of Hematology, University of Tsukuba Hospital Department of Hematology, Faculty of Medicine, University of Tsukuba

Bibliographic Information

Other Title
  • 骨髄異形成症候群の臨床像と体細胞遺伝子変異との関連
  • 症例報告 骨髄異形成症候群の臨床像と体細胞遺伝子変異との関連
  • ショウレイ ホウコク コツズイイケイセイ ショウコウグン ノ リンショウゾウ ト タイサイボウ イデンシ ヘンイ ト ノ カンレン

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Abstract

<p>Recent progress in sequencing studies has suggested that somatic mutations can be used in clinical sequencing for predicting prognosis and selecting treatment options in myelodysplastic syndrome (MDS). A 48-year-old man was diagnosed with refractory cytopenia with multilineage dysplasia that is classified as a subtype of high-risk MDS based on both revised International Prognostic Scoring System and refined WHO classification based Prognostic Scoring System. He received a bone marrow transplant from an HLA-matched sibling donor at X＋87 months because of disease progression. Targeted sequencing of 69 genes in bone marrow cells at X＋82 months revealed mutations in BCOR and U2AF1 genes. Variant allele frequencies of these mutations were almost unchanged in the bone marrow examined from X＋9 months to X＋80 months, but they subsequently decreased. Neither of these mutations was detected in the bone marrow at X＋88 months, a month after transplantation. The mutations often found in secondary leukemia or high-risk MDS were not detected in our patient. These serial genetic conditions may correspond to the relatively stable disease course over a long time.</p>

Journal

  • Rinsho Ketsueki

    Rinsho Ketsueki 59 (1), 80-83, 2018

    The Japanese Society of Hematology

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