Acute myeloid leukemia with type I <i>CBFB::MYH11</i> fusion gene not detected by screening test for leukemia-related chimeric genes

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  • UTSUMI Sae
    Department of Hematology, Hamanomachi Hospital
  • SHIMA Takahiro
    Department of Hematology, Hamanomachi Hospital Department of Medicine and Biosystemic Science, Kyushu University Graduate School of Medical Sciences
  • KUBARA Chiaki
    Department of Hematology, Hamanomachi Hospital Department of Medicine and Biosystemic Science, Kyushu University Graduate School of Medical Sciences
  • SEMBA Yuichiro
    Department of Medicine and Biosystemic Science, Kyushu University Graduate School of Medical Sciences Division of Precision Medicine, Kyushu University Graduate School of Medical Sciences
  • HAYASHI Masayasu
    Department of Hematology, Hamanomachi Hospital
  • TAKIGAWA Ken
    Department of Hematology, Hamanomachi Hospital
  • YOSHINO Teruhiko
    Department of Hematology, Hamanomachi Hospital
  • MINAMI Mariko
    Department of Hematology, Hamanomachi Hospital
  • MATSUO Yayoi
    Department of Hematology, Hamanomachi Hospital
  • KURIYAMA Takuro
    Department of Hematology, Hamanomachi Hospital
  • AKASHI Koichi
    Department of Medicine and Biosystemic Science, Kyushu University Graduate School of Medical Sciences
  • MAEDA Takahiro
    Division of Precision Medicine, Kyushu University Graduate School of Medical Sciences
  • TANIGUCHI Shuichi
    Department of Hematology, Hamanomachi Hospital
  • ETO Tetsuya
    Department of Hematology, Hamanomachi Hospital

Bibliographic Information

Other Title
  • 白血病キメラスクリーニング検査が陰性であったtype I <i>CBFB::MYH11</i>を有する急性骨髄性白血病
  • 白血病キメラスクリーニング検査が陰性であったtype I CBFB::MYH11を有する急性骨髄性白血病
  • ハッケツビョウ キメラスクリーニング ケンサ ガ インセイ デ アッタ type I CBFB::MYH11 オ ユウスル キュウセイ コツズイセイ ハッケツビョウ

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Description

<p>A 27-year-old woman with pancytopenia was admitted to our hospital. Bone marrow aspiration revealed 52.2% myeloperoxidase-positive myeloblasts, leading to a diagnosis of acute myeloid leukemia. While a screening test for chimeric genes related to leukemia initially yielded negative results, including for the CBFB::MYH11 fusion gene, G-banded karyotyping uncovered the presence of inv (16)(p13.1q22). Further investigation by fluorescence in situ hybridization (FISH) confirmed the split signals for CBFB. A second screening test for leukemia-related chimeric genes with different PCR primers revealed the elusive CBFB::MYH11 fusion gene. Subsequently, the type I CBFB::MYH11 fusion gene was identified through exhaustive exploration using RNA sequencing for fusion gene discovery. This exceptional case highlights the existence of a distinctive subtype of CBFB::MYH11 that may yield false-negative results in conventional chimeric fusion screening, thus emphasizing the indispensable utility of PCR primer modification, FISH, and RNA sequencing in the investigative process.</p>

Journal

  • Rinsho Ketsueki

    Rinsho Ketsueki 64 (12), 1503-1507, 2023

    The Japanese Society of Hematology

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