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<p>Myeloid/lymphoid neoplasms with tyrosine kinase gene fusions (MLN-TK) are rare hematologic malignancies characterized by recurrent kinase rearrangements, including <i>FGFR1</i>, often associated with aggressive clinical behavior. We report the first case of acute myeloid leukemia (AML) harboring a novel <i>TRAF3IP3</i>::<i>FGFR1</i> fusion, identified by whole transcriptome sequencing. The patient, a 35-year-old man, presented with monocytic AML and succumbed to disease within 40 days despite induction chemotherapy. Cytogenetic and molecular profiling revealed a complex monosomal karyotype and a pathogenic <i>TP53</i> mutation, both known adverse prognostic markers. The in-frame fusion retained the coiled-coil domain of TRAF3IP3 and the full tyrosine kinase domain of FGFR1, suggesting preserved dimerization and oncogenic signaling. This case broadens the spectrum of <i>FGFR1</i>-rearranged neoplasms and highlights the importance of early genomic profiling in aggressive leukemia. It also underscores the potential therapeutic opportunities with <i>FGFR1</i>-targeted agents such as pemigatinib.&#xa0;</p>

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TRAF3IP3::FGFR1: a novel FGFR1 fusion identified in an aggressive case of acute myeloid leukemia

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2025年7月1日

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  • Xue Chen,
  • Lili Yuan,
  • Xiaoli Ma,
  • Fang Wang,
  • Yang Zhang,
  • Panxiang Cao,
  • Ping Wu,
  • Tong Wang,
  • Jiaqi Chen,
  • Xiaosu Zhou,
  • Hongxing Liu

摘要

Myeloid/lymphoid neoplasms with tyrosine kinase gene fusions (MLN-TK) are rare hematologic malignancies characterized by recurrent kinase rearrangements, including FGFR1, often associated with aggressive clinical behavior. We report the first case of acute myeloid leukemia (AML) harboring a novel TRAF3IP3::FGFR1 fusion, identified by whole transcriptome sequencing. The patient, a 35-year-old man, presented with monocytic AML and succumbed to disease within 40 days despite induction chemotherapy. Cytogenetic and molecular profiling revealed a complex monosomal karyotype and a pathogenic TP53 mutation, both known adverse prognostic markers. The in-frame fusion retained the coiled-coil domain of TRAF3IP3 and the full tyrosine kinase domain of FGFR1, suggesting preserved dimerization and oncogenic signaling. This case broadens the spectrum of FGFR1-rearranged neoplasms and highlights the importance of early genomic profiling in aggressive leukemia. It also underscores the potential therapeutic opportunities with FGFR1-targeted agents such as pemigatinib.