Scholarlink

<p>We describe a unique case of <i>SAMD9</i>-associated myelodysplastic syndrome (MDS) with monosomy 7 that evolved over 16&#xa0;years into <i>BCR::ABL1</i>-positive acute myeloid leukemia (AML) and subsequently manifested as B-cell acute lymphoblastic leukemia (B-ALL). Genomic analysis at AML diagnosis revealed a germline <i>SAMD9</i> mutation together with somatic <i>RUNX1</i> and <i>PPM1D</i> mutations, supporting stepwise clonal evolution, with <i>BCR::ABL1</i> emerging as a late leukemogenic event. The dominant leukemic population at AML onset showed myeloid morphology and immunophenotype, whereas a minor CD19<sup>+</sup>CD10<sup>+</sup> population was already detectable. Following venetoclax and azacitidine therapy, the dominant leukemic phenotype shifted to B-ALL while retaining <i>BCR::ABL1</i> positivity. Detection of the Philadelphia chromosome in mature neutrophils at both AML onset and ALL relapse supported multilineage involvement of a multipotent <i>BCR::ABL1</i>-positive clone. Ponatinib achieved disease control. This case highlights late acquisition of <i>BCR::ABL1</i> during SAMD9-associated clonal evolution and therapy-driven phenotypic shift within a shared Ph-positive leukemic stem-cell hierarchy.</p>

错误：搜索内容不能为空，请输入英文关键词
错误：关键词超出字数限制，请精简
高级检索

Late acquisition of BCR::ABL1 during clonal evolution of SAMD9-associated MDS with phenotypic shift from AML to B-ALL

  • 期刊论文

  • 出版模式：

    开放获取

  • 发表日期：

    2026年7月30日

查看全文
  • Yusuke Nakata,
  • Anna Hiratsuka,
  • Takeshi Yoroidaka,
  • Wakana Takahashi,
  • Itaru Nishikawa,
  • Masataka Sakashita,
  • Shinya Yamada,
  • Hiroki Mizumaki,
  • Akiyo Yoshida,
  • Tatsuya Imi,
  • Hiroyuki Maruyama,
  • Hiroyuki Takamatsu,
  • Kohei Hosokawa,
  • Yasuhito Nannya,
  • Seishi Ogawa,
  • Toshihiro Miyamoto

摘要

We describe a unique case of SAMD9-associated myelodysplastic syndrome (MDS) with monosomy 7 that evolved over 16 years into BCR::ABL1-positive acute myeloid leukemia (AML) and subsequently manifested as B-cell acute lymphoblastic leukemia (B-ALL). Genomic analysis at AML diagnosis revealed a germline SAMD9 mutation together with somatic RUNX1 and PPM1D mutations, supporting stepwise clonal evolution, with BCR::ABL1 emerging as a late leukemogenic event. The dominant leukemic population at AML onset showed myeloid morphology and immunophenotype, whereas a minor CD19+CD10+ population was already detectable. Following venetoclax and azacitidine therapy, the dominant leukemic phenotype shifted to B-ALL while retaining BCR::ABL1 positivity. Detection of the Philadelphia chromosome in mature neutrophils at both AML onset and ALL relapse supported multilineage involvement of a multipotent BCR::ABL1-positive clone. Ponatinib achieved disease control. This case highlights late acquisition of BCR::ABL1 during SAMD9-associated clonal evolution and therapy-driven phenotypic shift within a shared Ph-positive leukemic stem-cell hierarchy.