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<p>The transforming acidic coiled-coil containing protein 1 (<i>TACC1</i>) gene is a recognized oncogenic driver in solid tumors through <i>FGFR1</i>::<i>TACC1</i> fusions, but remains extremely rare in acute myeloid leukemia (AML), with only one prior case of <i>RUNX1</i>::<i>TACC1</i> reported. Here, we describe the second documented <i>RUNX1</i>::<i>TACC1</i> fusion AML case, occurring in an 82-year-old male with t(8;21)(p11;q22) translocation. Comprehensive molecular characterization identified four transcript variants by RNA sequencing, including a new <i>RUNX1</i>(E7)::<i>TACC1</i>(E6) isoform and reciprocal <i>TACC1</i>::<i>RUNX1</i> fusions. Notably, initial FISH analysis misleadingly suggested <i>FGFR1</i> involvement, underscoring RNA-seq’s critical role in accurate rare fusion detection. While the patient showed no response to azacitidine/venetoclax, the limited number of cases precludes definitive conclusions about treatment resistance patterns. These findings expand <i>TACC1</i>’s oncogenic spectrum to AML and warrant further investigation to determine whether <i>RUNX1</i>::<i>TACC1</i> represents a clinically distinct molecular subtype and to elucidate its potential therapeutic vulnerabilities.</p>

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Diagnostic pitfalls and molecular insights in a rare RUNX1::TACC1-positive AML with t(8;21)(p11;q22)

  • 期刊论文

  • 发表日期：

    2026年7月3日

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  • Shanshan Sun,
  • Zhi Wang,
  • Long Chen,
  • Xiaoqian Zhang,
  • Yani Lin,
  • Enbin Liu,
  • Xin Tian,
  • Xiaoju Hou,
  • Shaobin Yang,
  • Yu Zheng

摘要

The transforming acidic coiled-coil containing protein 1 (TACC1) gene is a recognized oncogenic driver in solid tumors through FGFR1::TACC1 fusions, but remains extremely rare in acute myeloid leukemia (AML), with only one prior case of RUNX1::TACC1 reported. Here, we describe the second documented RUNX1::TACC1 fusion AML case, occurring in an 82-year-old male with t(8;21)(p11;q22) translocation. Comprehensive molecular characterization identified four transcript variants by RNA sequencing, including a new RUNX1(E7)::TACC1(E6) isoform and reciprocal TACC1::RUNX1 fusions. Notably, initial FISH analysis misleadingly suggested FGFR1 involvement, underscoring RNA-seq’s critical role in accurate rare fusion detection. While the patient showed no response to azacitidine/venetoclax, the limited number of cases precludes definitive conclusions about treatment resistance patterns. These findings expand TACC1’s oncogenic spectrum to AML and warrant further investigation to determine whether RUNX1::TACC1 represents a clinically distinct molecular subtype and to elucidate its potential therapeutic vulnerabilities.