ArticleMolecular cytogenetics2025
Optical genome mapping identifies novel ENOX2::RUNX1 t(X;21)(q26.1;q22.12) rearrangement in acute myeloid leukemia-myelodysplasia related: first case report.
Article in Molecular cytogenetics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
2 citing papers in PubMed.
- p53-Dependent ENOX2 Downregulation Mediates the Apoptotic Responses to Heteroarene-Fused Anthraquinones in Colon Cancer Cells.Biomolecules · 2026Article
- Global bibliometric analysis of TP53-mutated acute myeloid leukemia: research hotspots and evolution.Translational cancer research · 2026Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
4 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundAcute myeloid leukemia-myelodysplasia related (AML-MR) is a biologically and clinically distinct subtype of AML that arises in the context of prior dysplasia. It is characterized by adverse cytogenetics and poor prognosis compared to other AML subtypes. Several genetic mechanisms underpin the pathogenesis of AML-MR; however, additional findings are likely to come to light over time with advanced genomic technologies, enhancing our understanding of their evolution. This report details a case of AML-MR involving unreported gene fusion. CASE PRESENTATION: A 59-year-old female with multiple comorbidities presented with slurred speech. Pathological evaluation and DNA-based next-generation sequencing results were consistent with AML-MR. AML fluorescence in situ hybridization (FISH) panel revealed an extra signal for RUNX1. G-banding karyotype revealed a solitary rare t(X;21)(q26.1;q22.12) in 18 out of 20 cells analyzed. Optical genome mapping (OGM) was performed to precisely localize the breakpoints and identify the specific genes or gene fusions created by the translocation. OGM identified a novel fusion involving ENOX2 (Xq26.1) and RUNX1 (21q22.12), which was subsequently confirmed by a retrospective custom FISH probe targeting ENOX2.
conclusionsThe identification of an ENOX2::RUNX1 fusion in AML-MR expands the spectrum of rare RUNX1 fusions. High-resolution approaches such as OGM enable precise delineation of fusion partners and breakpoints beyond the resolution of conventional cytogenetics. While the biological and clinical significance of this fusion remains to be determined, this finding highlights the value of OGM in the identification of novel and rare genomic rearrangements in leukemia and other malignancies.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.