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Updated: Jul 4, 2026
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Investigation of the Transcriptional Role of a RUNX1 Intronic Silencer by CRISPR/Cas9 Ribonucleoprotein in Acute Myeloid Leukemia Cells
Published on: September 1, 2019
Diagnostic pitfalls and molecular insights in a rare RUNX1::TACC1-positive AML with t(8;21)(p11;q22)
Shanshan Sun1, Zhi Wang2, Long Chen3
1Shouguang People's Hospital, Shouguang, China.
Journal of Hematopathology
|July 2, 2026
Summary
This study reports the second case of RUNX1::TACC1 fusion in acute myeloid leukemia (AML), a rare oncogenic driver. Findings expand the TACC1 gene
Area of Science:
- Hematology
- Oncology
- Molecular Biology
Background:
- The transforming acidic coiled-coil containing protein 1 (TACC1) gene is an oncogenic driver in solid tumors via FGFR1::TACC1 fusions.
- TACC1 fusions are exceptionally rare in acute myeloid leukemia (AML), with only one prior RUNX1::TACC1 case documented.
Purpose of the Study:
- To report and characterize the second documented case of RUNX1::TACC1 fusion in AML.
- To highlight the importance of RNA sequencing in identifying rare gene fusions.
- To expand the understanding of TACC1's role in myeloid malignancies.
Main Methods:
- Case report of an 82-year-old male with AML and t(8;21)(p11;q22) translocation.
- Comprehensive molecular characterization using RNA sequencing.
- Fluorescence in situ hybridization (FISH) analysis.
Main Results:
- Identified the second RUNX1::TACC1 fusion AML case.
- Discovered four transcript variants, including a novel RUNX1(E7)::TACC1(E6) isoform and reciprocal TACC1::RUNX1 fusions.
- Initial FISH analysis inaccurately suggested FGFR1 involvement, emphasizing RNA-seq's diagnostic superiority for rare fusions.
Conclusions:
- The RUNX1::TACC1 fusion expands the oncogenic spectrum of TACC1 to AML.
- Further research is needed to determine if RUNX1::TACC1 represents a distinct molecular subtype and to explore therapeutic vulnerabilities.
- The patient's lack of response to azacitidine/venetoclax suggests potential treatment resistance patterns, though more cases are required for confirmation.
