Molecular analysis of the <i>BCR</i>-<i>ABL1</i> fusion gene in a chronic myeloid leukemia patient with <i>BCR</i>-<i>ABL1</i> International Scale-undetectable disease

  • KAWAMATA Norihiko
    Tokyo Medical and Dental University (TMDU), School of Medicine Hematology/Division of Immunotherapy for Hematopoietic Disorders, TMDU, School of Medicine
  • WATANABE Ryohei
    Tokyo Medical and Dental University (TMDU), School of Medicine

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Other Title
  • International Scaleによる<i>BCR-ABL1</i>測定が不能であった慢性骨髄性白血病の分子生物学的解析
  • 症例報告 第10回日本血液学会関東甲信越地方会 優秀演題 International ScaleによるBCR-ABL1測定が不能であった慢性骨髄性白血病の分子生物学的解析
  • ショウレイ ホウコク ダイ10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 International Scale ニ ヨル BCR-ABL1 ソクテイ ガ フノウ デ アッタ マンセイ コツズイセイ ハッケツビョウ ノ ブンシ セイブツガクテキ カイセキ

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Abstract

<p>BCR-ABL1 International Scale (IS) measurement is an important technique used to monitor chronic myeloid leukemia (CML) when patients are treated with tyrosine kinase inhibitors. In very rare cases, the BCR-ABL1 IS measurement fails to detect BCR-ABL1 chimeric messages for unknown reasons. Such a situation was also experienced in our study; therefore, molecular analysis of BCR-ABL1 fusion gene was performed. A breakpoint in the ABL1 gene was identified in the middle of the a2 exon, leading to generation of chimeric messages lacking a nucleic acid sequence encoded by this exon (e14a3 chimeric message). The ABL1 a2 exon is critical for quantification of BCR-ABL1 chimeric messages with the measurement scales used in medical laboratories. Absence of this referred nucleic acid sequence was the reason why BCR-ABL1 IS measurement failed to detect the chimeric messages in our study. In the future, such rare cases of CML, with BCR-ABL1 chimeric messages not detected by standard IS measurements, in Japan should be collected and their molecular structures should be analyzed.</p>

Journal

  • Rinsho Ketsueki

    Rinsho Ketsueki 60 (7), 767-772, 2019

    The Japanese Society of Hematology

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