Acquired clonal chromosome X aberrations, whether numerical or structural, as the sole chromosomal anomaly in acute myeloid leukemia (AML) are very uncommon. The scarcity of nonconstitutional chromosome X aberrations detected in AML has prevented any meaningful evaluation of their prognostic significance. In this report, we describe the case of a patient with AML who had the unusual acquired karyotype of 45,X/-X,46,X,i(X)(q10) on presentation and 45,X,-X,add(19)(p13.3) on relapse. We also briefly review the literature on acquired numerical and structural chromosome X aberrations as the sole chromosomal anomaly in AML. This case adds to the sparse body of literature regarding chromosome X aberrations in AML. More case reports are needed to further elucidate the importance of such aberrations.
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http://dx.doi.org/10.1016/j.cancergencyto.2007.11.010 | DOI Listing |
Toxicol Appl Pharmacol
January 2025
Division of Pathology, National Institute of Health Sciences, 3-25-26 Tonomachi, Kawasaki-ku, Kawasaki-shi, Kanagawa 210-9501, Japan.
Acetamide is a hepatocarcinogen in rats. We previously revealed that acetamide induces characteristic large micronuclei in rat liver, suggesting the possible involvement of chromosome aberrations in acetamide-induced hepatocarcinogenesis. To elucidate the mechanism of large micronuclei formation, in this study we examined time-dependent changes in rat hepatocytes after administration of acetamide.
View Article and Find Full Text PDFCurr Protoc
January 2025
Myriad Genetic Laboratories, Inc., Salt Lake City, Utah.
Balanced translocation carriers experience elevated reproductive risks, including pregnancy loss and children with anomalies due to generating chromosomally unbalanced gametes. While understanding the likelihood of producing unbalanced conceptuses is critical for individuals to make reproductive decisions, risk estimates are difficult to obtain as most balanced translocations are unique. To improve reproductive risk estimates, Drs.
View Article and Find Full Text PDFGenes Chromosomes Cancer
January 2025
Laboratory of Cancer Genetics and Tumor Biology, Translational Medicine Research Unit, Medical Research Center Oulu and Biocenter Oulu, University of Oulu, Oulu, Finland.
Myelodysplastic neoplasia with complex karyotype (CK-MDS) poses significant clinical challenges and is associated with poor survival. Detection of structural variants (SVs) is crucial for diagnosis, prognostication, and treatment decision-making in MDS. However, the current standard-of-care (SOC) cytogenetic testing, relying on karyotyping, often yields ambiguous results in cases with CK.
View Article and Find Full Text PDFInt J Mol Sci
January 2025
Department of Neurology, Centro Hospitalar Universitário de Santo António, Unidade Local de Saúde de Santo António, 4099-001 Porto, Portugal.
Chromosomal aberrations are rare but known causes of movement disorders, presenting with broad phenotypes in which dystonia may be predominant. During the investigation of such cases, chromosomal studies are not often considered as a first approach. In this article, the authors describe a family affected by a generalized form of dystonia, evolving from a focal phenotype, for which a new X chromosome large duplication was found to be the likely causative, therefore highlighting the role of such studies when facing complex movement disorders.
View Article and Find Full Text PDFInt J Mol Sci
January 2025
Neuroscience and Mental Health Innovation Institute, Cardiff University, Hadyn Ellis Building, Cardiff CF24 4HQ, UK.
Deletion and duplication in the human 16p11.2 chromosomal region are closely linked to neurodevelopmental disorders, specifically autism spectrum disorder. Data from neuroimaging studies suggest white matter microstructure aberrations across these conditions.
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