ArticleCancers2025
Novel Recurrent Cytogenetic Abnormalities Predict Overall Survival in Tetraploid/Near-Tetraploid Myelodysplastic Syndrome and Acute Myeloid Leukemia.
Article in Cancers, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
BACKGROUND/
objectivesTetraploidy (4n = 92 chromosomes) and near-tetraploidy (81-103 chromosomes) (T/NT) are uncommon cytogenetic events in MDS/AML (~1%). Abnormalities reported to be associated with T/NT MDS/AML include -5/del(5q), -7/del(7q), +8, and +21. However, other clinically relevant abnormalities likely remain "hidden" in long strings of ISCN cytogenetic nomenclature when evaluated visually. To date, no studies have had the statistical power and a computational method to identify novel recurrent abnormalities associated with the T/NT karyotype or overall survival (OS).
methodsUsing CytoGPS, a bioinformatic tool we developed, we converted karyotypes from a combined cohort of 75 T/NT MDS/AML cases from two institutions into a binary Loss-Gain-Fusion model, which is analyzable using computational methods.
resultsOn univariate analyses, age as a continuous variable (
conclusionsUsing the results of univariate analyses to build multivariate models of OS, the best predictor of OS was the presence of any one of these six cytogenetic abnormalities.
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