ArticleGenes, chromosomes & cancer2026
Complex Genomic Alterations in TP53-Mutated Myelodysplastic Syndrome and Acute Myeloid Leukemia Involving EPOR/JAK2 Amplification, ERG Copy Gains, and TCF3 Deletion.
Article in Genes, chromosomes & cancer, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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
0 citing papers in PubMed.
No citing paper in PubMed yet.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
10 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundMyelodysplastic syndromes (MDS) and acute myeloid leukemias (AML) harboring TP53 mutations are defined by extreme genomic instability, complex karyotypes (CK), and poor prognosis. While large-scale chromosomal imbalances are common in CK-MDS/AML, the synergy between focal amplifications of signaling drivers and the disruption of transcriptional regulators remains poorly elucidated.
methodsWe performed a comprehensive clinical, cytogenetic (GTG-banding, M-FISH, M-Band), and molecular (targeted FISH, NGS) analysis of seven patients with MDS and AML characterized by a recurrent and distinct genomic signature.
resultsAll cases exhibited highly complex karyotypes on a TP53-mutated background. We identified high-level focal amplifications of EPOR (19p13.2) and JAK2 (9p24.1), predominantly manifesting as homogeneously staining regions (HSRs) or complex "sandwich-like" derivative chromosomes. Notably, these signaling alterations consistently co-occurred with monoallelic deletions of the TCF3 (E2A) tumor suppressor (19p13.3) and copy number gains of the ERG transcription factor (21q22). Detailed structural analysis indicates that TCF3 loss likely arises as a structural consequence of chromosome 19 rearrangements driving EPOR amplification. Based on this data, we propose a conceptual model of leukemogenesis where EPOR/JAK2 co-amplification potentially drives constitutive JAK2/STAT5 signaling, while concurrent ERG gain and TCF3 haploinsufficiency contribute to maturation delay. TP53 deficiency appears to be the primary permissive factor enabling the stabilization of these massive structural rearrangements.
conclusionsOur findings outline a recurrent and biologically coherent genomic pattern within the spectrum of TP53-mutated myeloid neoplasms, demonstrating significant phenotypic overlap with erythroid leukemia features in a subset of cases. Given the small cohort size, these findings are hypothesis-generating. However, this convergence of predicted JAK2/STAT5 pathway hyperactivation and transcriptional disinhibition points to a theoretical therapeutic vulnerability that warrants prospective validation in larger collaborative studies.
Indexed as
Identifiers
What Socratic 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 Socratic graph.