Philadelphia chromosome-positive acute lymphoblastic leukemia carrying the p230 μ-<i>BCR-ABL1</i> fusion gene

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  • p230 μ-<i>BCR-ABL1</i>融合遺伝子を認めたフィラデルフィア染色体陽性急性リンパ芽球性白血病の一例
  • Philadelphia chromosome-positive acute lymphoblastic leukemia carrying the p230 μ-BCR-ABL1 fusion gene

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<p>A woman in her seventies presented with leukocytosis. Her white cell count was 33.87 × 103/μL with 80.5% leukemia cells. Her bone marrow was replaced with peroxidase-negative leukemia blasts that were CD10+/−, CD19+, CD20, CD13+, CD33−/dim, CD34+, CD117−/dim, CD66c+/−, cytoplasmic (cy-) CD79a+, terminal doxynucleotidyl transferase+, and cy-IGHM. G-banding revealed t(9;22)(q34;q11.2) as the sole chromosome abnormality, and reverse transcriptase polymerase chain reaction (PCR) and nucleotide sequencing confirmed that the fusion encompassed exon 19 of BCR and exon 2 of ABL1, which generate p230 micro (μ)-BCR-ABL1 mRNA. We treated her with a second-generation tyrosine kinase inhibitor, dasatinib, in combination with low-intensity chemotherapy (vincristine and dexamethasone) followed by consolidation, leading to a hematological complete response (CR) and 10−4 level reduction of leukemia cell burden as measured by LightCycler®-based real-time quantitative PCR assay. The patient received maintenance treatment with dasatinib followed by ponatinib and achieved hematological CR for 2 years and 8 months. This report showed that patients with the p230 μ-BCR-ABL1 fusion gene may present with not only chronic myeloid leukemia with mild clinical features but also Philadelphia-positive acute lymphoblastic leukemia (Ph+ ALL) with precursor B-cell immunophenotype; moreover, dasatinib-based induction, consolidation, and maintenance therapies are as effective for Ph+ ALL with μ-BCR-ABL1 as those with minor- and major-BCR-ABL1. </p>

Journal

  • Tenri Medical Bulletin

    Tenri Medical Bulletin 25 (1), 29-40, 2022-12-25

    Tenri Foundation, Tenri Institute of Medical Research

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