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Peer-reviewedCC BY 4.0Frontiers in Oncology

A novel RUNX1::ANKLE2 fusion in high-risk MDS with progression to AML: a case report

  • Li Liu1
  • Miao Zhao1
  • Yonghong Tan1
  • Xixi Zhu1
  • Baitao Dou1
  • Juanxia Xing2
  • Surong Fu2
  • Tingting Liu2
  • Anqing Yang1
  • Guofa Xu1
  1. 1Department of Hematology, Chongqing University Fuling Hospital
  2. 2Laboratory Department, Chongqing University Fuling Hospital
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Abstract

Background: The unusual RUNX1 fusion partners in myelodysplastic syndromes (MDS) are not well-known. We present the laboratory features, diagnostic features and clinical course of a patient with MDS who progressed to acute myeloid leukemia (AML) and harbored a novel RUNX1::ANKLE2 fusion.

Case presentation: A 71-year-old man was diagnosed with myelodysplastic syndrome with increased blasts-2 (MDS-IB-2), presenting with pancytopenia, multilineage dysplasia, and 15% bone marrow blasts. Targeted DNA sequencing found some adverse-risk mutations, and targeted RNA sequencing discovered a new in-frame RUNX1::ANKLE2 fusion caused by a cryptic t(12;21)(q24.33;q22.12) translocation. The patient rapidly progressed to AML and achieved (measurable residual disease) MRD negativity following treatment with the (Venetoclax combined with azacytidine) VA regimen.

Conclusion: This is the first reported case of MDS with a RUNX1::ANKLE2 fusion. This case demonstrates the necessity of targeted RNA sequencing for detecting cryptic and previously unrecognized gene fusions that may be missed by conventional cytogenetic or DNA-based approaches. Although the clinical and biological significance of RUNX1::ANKLE2 remains uncertain, its identification expands the spectrum of RUNX1 fusion partners in myeloid neoplasms. Further cases and functional studies are needed to determine whether this fusion contributes to disease progression or represents a rare, incidental event.

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Cite

BibTeXRIS
BibTeX
@article{liu2026novel,
  title = {{A novel RUNX1::ANKLE2 fusion in high-risk MDS with progression to AML: a case report}},
  author = {Li Liu and Miao Zhao and Yonghong Tan and Xixi Zhu and Baitao Dou and Juanxia Xing and Surong Fu and Tingting Liu and Anqing Yang and Guofa Xu},
  journal = {Frontiers in Oncology},
  year = {2026},
  month = nov,
  doi = {10.3389/fonc.2026.2012113},
  url = {https://www.frontiersin.org/articles/10.3389/fonc.2026.2012113/full},
  note = {CC BY 4.0},
}
RIS
TY  - JOUR
TI  - A novel RUNX1::ANKLE2 fusion in high-risk MDS with progression to AML: a case report
AU  - Li Liu
AU  - Miao Zhao
AU  - Yonghong Tan
AU  - Xixi Zhu
AU  - Baitao Dou
AU  - Juanxia Xing
AU  - Surong Fu
AU  - Tingting Liu
AU  - Anqing Yang
AU  - Guofa Xu
PY  - 2026
DA  - 2026/11/09
JO  - Frontiers in Oncology
DO  - 10.3389/fonc.2026.2012113
UR  - https://www.frontiersin.org/articles/10.3389/fonc.2026.2012113/full
AB  - Background: The unusual RUNX1 fusion partners in myelodysplastic syndromes (MDS) are not well-known. We present the laboratory features, diagnostic features and clinical course of a patient with MDS who progressed to acute myeloid leukemia (AML) and harbored a novel RUNX1::ANKLE2 fusion.  Case presentation: A 71-year-old man was diagnosed with myelodysplastic syndrome with increased blasts-2 (MDS-IB-2), presenting with pancytopenia, multilineage dysplasia, and 15% bone marrow blasts. Targeted DNA sequencing found some adverse-risk mutations, and targeted RNA sequencing discovered a new in-frame RUNX1::ANKLE2 fusion caused by a cryptic t(12;21)(q24.33;q22.12) translocation. The patient rapidly progressed to AML and achieved (measurable residual disease) MRD negativity following treatment with the (Venetoclax combined with azacytidine) VA regimen.  Conclusion: This is the first reported case of MDS with a RUNX1::ANKLE2 fusion. This case demonstrates the necessity of targeted RNA sequencing for detecting cryptic and previously unrecognized gene fusions that may be missed by conventional cytogenetic or DNA-based approaches. Although the clinical and biological significance of RUNX1::ANKLE2 remains uncertain, its identification expands the spectrum of RUNX1 fusion partners in myeloid neoplasms. Further cases and functional studies are needed to determine whether this fusion contributes to disease progression or represents a rare, incidental event.
SN  - 2234-943X
ER  -