<i>De novo</i> blast phase of chronic myeloid leukemia with 3q26 abnormality diagnosed by cytogenetic analysis of extramedullary lesion

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  • MATSUNAGA Takeaki
    Department of Hematology, Saitama Medical Center, Saitama Medical University
  • NAGANUMA Ken
    Department of Hematology, Saitama Medical Center, Saitama Medical University
  • TABAYASHI Takayuki
    Department of Hematology, Saitama Medical Center, Saitama Medical University
  • KAWADA Taisuke
    Department of Hematology, Saitama Medical Center, Saitama Medical University
  • SAKATA Noriyuki
    Department of Hematology, Saitama Medical Center, Saitama Medical University
  • TAKAHASHI Yasuyuki
    Department of Hematology, Saitama Medical Center, Saitama Medical University
  • KIMURA Yuta
    Department of Hematology, Saitama Medical Center, Saitama Medical University
  • ANAN Tomoe
    Department of Hematology, Saitama Medical Center, Saitama Medical University
  • MITSUHASHI Takayuki
    Department of Hematology, Saitama Medical Center, Saitama Medical University Department of Laboratory Medicine, Keio University School of Medicine
  • KUBOTA Yasushi
    Department of Hematology, Saitama Medical Center, Saitama Medical University
  • SAWADA Keisuke
    Department of Pathology, Saitama Medical Center, Saitama Medical University
  • YAMASHITA Takahisa
    Department of Pathology, Saitama Medical Center, Saitama Medical University
  • MOMOSE Syuji
    Department of Pathology, Saitama Medical Center, Saitama Medical University
  • HIGASHI Morihiro
    Department of Pathology, Saitama Medical Center, Saitama Medical University
  • TAMARU Jun-ichi
    Department of Pathology, Saitama Medical Center, Saitama Medical University
  • KIZAKI Masahiro
    Department of Hematology, Saitama Medical Center, Saitama Medical University

Bibliographic Information

Other Title
  • 髄外病変の細胞遺伝学的検索により診断に至った3q26異常を伴う初発急性転化期慢性骨髄性白血病
  • 髄外病変の細胞遺伝学的検索により診断に至った3q26異常を伴う初発急性転化期慢性骨髄性白血病 : 第16回日本血液学会関東甲信越地方会 優秀演題
  • ズイガイ ビョウヘン ノ サイボウ イデンガクテキ ケンサク ニ ヨリ シンダン ニ イタッタ 3q26 イジョウ オ トモナウ ショハツ キュウセイ テンカキ マンセイ コツズイセイ ハッケツビョウ : ダイ16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 ユウシュウ エンダイ

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Abstract

<p>A 62-year-old woman was presented at our hospital with visual disturbance. An ocular examination revealed bilateral Roth spots. Laboratory data revealed leukocytosis (236,200 µl) with an excess blast (11%). Physical examination and computed tomography (CT) showed systemic lymphadenopathy. A bone marrow examination revealed a composition of 9.2% blast. Chromosomal analysis on bone marrow cells revealed 46,XX,t (3;12)(q26.2;p13),t (9;22)(q34.1;q11.2) in 80% of metaphases (16/20). Inguinal lymph node biopsy revealed diffuse proliferation of myeloperoxidase (MPO)-positive abnormal cells. Fluorescence in situ hybridization analysis was used to detect the BCR-ABL1 fusion gene and split the signals of MECOM and ETV6. She was diagnosed with de-novo chronic myeloid leukemia (CML) extramedullary blast crisis. She received tyrosine kinase inhibitor (TKI) combination chemotherapy and allogeneic hematopoietic stem cell transplantation and achieved a major molecular response. In this study, we reported a case of CML in blast-phase initially presenting as extramedullary, in which cytogenetic and molecular analyses were useful in the staging method.</p>

Journal

  • Rinsho Ketsueki

    Rinsho Ketsueki 63 (12), 1643-1647, 2022

    The Japanese Society of Hematology

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