Acute myeloid leukemia with t(3;21)(q13;q22), a novel simple variant of the 21q22/<i>RUNX1</i> translocation

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  • TSURUOKA Yuka
    Department of Internal Medicine, Division of Hematology and Oncology, St. Marianna University School of Medicine
  • SAKAI Hirotaka
    Department of Internal Medicine, Division of Hematology and Oncology, St. Marianna University School of Medicine
  • UCHIDA Akiko
    Department of Internal Medicine, Division of Hematology and Oncology, St. Marianna University School of Medicine
  • UEMURA Yu
    Department of Internal Medicine, Division of Hematology and Oncology, St. Marianna University School of Medicine
  • SATO Kazuyuki
    Department of Internal Medicine, Division of Hematology and Oncology, St. Marianna University School of Medicine
  • YOKOI Satoshi
    Department of Internal Medicine, Division of Hematology and Oncology, St. Marianna University School of Medicine
  • NISHIO Yuji
    Department of Internal Medicine, Division of Hematology and Oncology, St. Marianna University School of Medicine
  • MATSUNAWA Manabu
    Department of Internal Medicine, Division of Hematology and Oncology, St. Marianna University School of Medicine
  • SUZUKI Yoshinori
    Department of Internal Medicine, Division of Hematology and Oncology, St. Marianna University School of Medicine
  • ISOBE Yasushi
    Department of Internal Medicine, Division of Hematology and Oncology, St. Marianna University School of Medicine
  • KATO Masayuki
    Department of Internal Medicine, Division of Hematology and Oncology, St. Marianna University School of Medicine
  • TOMITA Naoto
    Department of Internal Medicine, Division of Hematology and Oncology, St. Marianna University School of Medicine
  • INOUE Yasuyuki
    Department of Internal Medicine, Division of Hematology and Oncology, St. Marianna University School of Medicine
  • MIURA Ikuo
    Department of Internal Medicine, Division of Hematology and Oncology, St. Marianna University School of Medicine

Bibliographic Information

Other Title
  • 21q22/<i>RUNX1</i>の新規単純変異転座t(3;21)(q13;q22)を伴う急性骨髄性白血病
  • 症例報告 第4回日本血液学会関東甲信越地方会 奨励賞 21q22/RUNX1の新規単純変異転座t(3;21)(q13;q22)を伴う急性骨髄性白血病
  • ショウレイ ホウコク ダイ4カイ ニホン ケツエキ ガッカイ カントウ コウシンエツチホウカイ ショウレイショウ 21q22/RUNX1 ノ シンキ タンジュン ヘンイテンザt(3;21)(q13;q22)オ トモナウ キュウセイ コツズイセイ ハッケツビョウ

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Abstract

<p>A 69-year-old man diagnosed with leukocytosis was referred to our hospital in July 201X. The patient was diagnosed as having a myelodysplastic/myeloproliferative neoplasm. However, he presented with leukemia 2 months later. Chromosomal analysis of a bone marrow sample documented that this patient had a normal karyotype. The patient was successfully treated with idarubicin and cytarabine, and he underwent three courses of consolidation therapy. However, he suffered a relapse in May of the following year. A cytogenetic analysis revealed the presence of a t (3;21) (q13;q22) translocation, and fluorescence in situ hybridization of metaphase spreads detected three signals corresponding to the runt related transcription factor 1 (RUNX1) on the derivative chromosomes 3 and 21, besides the normal chromosome 21. Chromosomal translocations in leukemia often involve genes encoding transcription factors, and the RUNX1 is a common target for such translocations. To the best of our knowledge, this is a novel variant of the RUNX1 translocation. Identifying genes associated with translocations in leukemia contributes to novel insights into the mechanisms of disease progression and chemotherapy resistance and also facilitates the development of molecularly targeted therapies.</p>

Journal

  • Rinsho Ketsueki

    Rinsho Ketsueki 58 (1), 3-8, 2017

    The Japanese Society of Hematology

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