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<p>De novo Ph-positive MDS with the micro <i>BCR::ABL1</i> (e19a2/p230) transcript is rare. Here, we report a case of MDS with multilineage dysplasia in an 86-year-old woman. Reverse transcription polymerase chain reaction (RT-PCR) showed the following karyotype: 46, XX, t(9;22)(q34.1;q11.2), i(17)(q10) [20], and p230 <i>BCR::ABL1</i>. Targeted NGS at diagnosis revealed mutations in <i>CSF3R</i>, <i>BCOR</i>, <i>SRSF2</i>, and <i>ASXL1</i>. Low-dose dasatinib (20&#xa0;mg/day) reduced <i>BCR::ABL1</i> levels (FISH negative, RT-PCR positive), but had no effect on anemia, dysplasia, or transfusion frequency. At six months, panel results showed loss of all mutations except <i>ASXL1</i>, as well as clearance of Ph-positive subclones. However, an <i>ASXL1</i> founder clone persisted. Post-treatment chromosome analysis was not feasible because of poor cell growth. Serial genomics suggested that Ph positivity was a late/secondary event on a pre-existing <i>ASXL1</i>-mutant background. In Ph-positive de novo MDS, <i>BCR::ABL1</i> transcript responses alone may not reflect disease control when an adverse founder clone persists. Integrating panel-based NGS with fusion transcript monitoring may improve therapeutic decision-making and prognostic assessment.</p>

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Philadelphia chromosome-positive de novo myelodysplastic syndrome with the p230 BCR::ABL1 fusion gene: a case report

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2025年10月28日

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  • Hidetsugu Kawai,
  • Hidehito Fukushima,
  • Yasuhito Nannya,
  • Makoto Onizuka,
  • Yoshiaki Ogawa,
  • Hiroshi Kawada

摘要

De novo Ph-positive MDS with the micro BCR::ABL1 (e19a2/p230) transcript is rare. Here, we report a case of MDS with multilineage dysplasia in an 86-year-old woman. Reverse transcription polymerase chain reaction (RT-PCR) showed the following karyotype: 46, XX, t(9;22)(q34.1;q11.2), i(17)(q10) [20], and p230 BCR::ABL1. Targeted NGS at diagnosis revealed mutations in CSF3R, BCOR, SRSF2, and ASXL1. Low-dose dasatinib (20 mg/day) reduced BCR::ABL1 levels (FISH negative, RT-PCR positive), but had no effect on anemia, dysplasia, or transfusion frequency. At six months, panel results showed loss of all mutations except ASXL1, as well as clearance of Ph-positive subclones. However, an ASXL1 founder clone persisted. Post-treatment chromosome analysis was not feasible because of poor cell growth. Serial genomics suggested that Ph positivity was a late/secondary event on a pre-existing ASXL1-mutant background. In Ph-positive de novo MDS, BCR::ABL1 transcript responses alone may not reflect disease control when an adverse founder clone persists. Integrating panel-based NGS with fusion transcript monitoring may improve therapeutic decision-making and prognostic assessment.