Authors
Shanshan Sun, Zhi Wang, Long Chen, Xiaoqian Zhang, Yani Lin, Enbin Liu, Xin Tian, Xiaoju Hou, Shaobin Yang, Yu Zheng
Published in
Journal of hematopathology. Volume 19. Issue 1. Jul 03, 2026. Epub Jul 03, 2026.
Abstract
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.
PMID:
42393397
Bibliographic data and abstract were imported from PubMed on 03 Jul 2026.
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