ArticleLeukemia2010
Identification of acquired copy number alterations and uniparental disomies in cytogenetically normal acute myeloid leukemia using high-resolution single-nucleotide polymorphism analysis.
Article in Leukemia, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 63 papers.
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Who cites it
63 citing papers in PubMed, 138 citations in OpenAlex.
- Trial
- Sequence-dependent splicing dysregulation drives therapy resistance in pediatric AML.Cell reports. Medicine · 2026Article
- Whole Exome Sequencing of Intermediate-Risk Acute Myeloid Leukemia without Recurrent Genetic Abnormalities Offers Deeper Insights into New Diagnostic Classifications.International journal of molecular sciences · 2024Article
- The Importance of Confirming False Homozygosity in Pretransplant HLA Typing Results of Patients with Hematologic Malignancies.International journal of medical sciences · 2024Article
- Mutation rates and fitness consequences of mosaic chromosomal alterations in blood.Nature genetics · 2023Article
- Optical genome mapping in acute myeloid leukemia: a multicenter evaluation.Blood advances · 2023Article
- The spectrum of GATA2 deficiency syndrome.Blood · 2023Article
- Multi-omics analysis identifies RFX7 targets involved in tumor suppression and neuronal processes.Cell death discovery · 2023Article
- Transcription factor RFX7 governs a tumor suppressor network in response to p53 and stress.Nucleic acids research · 2021Article
- Article
- Identifying a novel 5-gene signature predicting clinical outcomes in acute myeloid leukemia.Clinical & translational oncology : official publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico · 2021Article
- HLA-haplotype loss after TCRαβ/CD19-depleted haploidentical HSCT.Bone marrow transplantation · 2021Article
- Novel prognostic genes and subclasses of acute myeloid leukemia revealed by survival analysis of gene expression data.BMC medical genomics · 2021Article
- Analysis of SNP Array Abnormalities in Patients with DE NOVO Acute Myeloid Leukemia with Normal Karyotype.Scientific reports · 2020Article
- Article
- Clofarabine Improves Relapse-Free Survival of Acute Myeloid Leukemia in Younger Adults with Micro-Complex Karyotype.Cancers · 2019Article
- Genetic Characterization and Prognostic Relevance of Acquired Uniparental Disomies in Cytogenetically Normal Acute Myeloid Leukemia.Clinical cancer research : an official journal of the American Association for Cancer Research · 2019Article
- [Research progress on uniparental disomy in cancer].Zhejiang da xue xue bao. Yi xue ban = Journal of Zhejiang University. Medical sciences · 2019Review
- Recurrent genetic HLA loss in AML relapsed after matched unrelated allogeneic hematopoietic cell transplantation.Blood advances · 2019Article
- The transcription factor Rfx7 limits metabolism of NK cells and promotes their maintenance and immunity.Nature immunology · 2018Article
3 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
14 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Recent advances in genome-wide single-nucleotide polymorphism (SNP) analyses have revealed previously unrecognized microdeletions and uniparental disomy (UPD) in a broad spectrum of human cancers. As acute myeloid leukemia (AML) represents a genetically heterogeneous disease, this technology might prove helpful, especially for cytogenetically normal AML (CN-AML) cases. Thus, we performed high-resolution SNP analyses in 157 adult cases of CN-AML. Regions of acquired UPDs were identified in 12% of cases and in the most frequently affected chromosomes, 6p, 11p and 13q. Notably, acquired UPD was invariably associated with mutations in nucleophosmin 1 (NPM1) or CCAAT/enhancer binding protein-alpha (CEBPA) that impair hematopoietic differentiation (P=0.008), suggesting that UPDs may preferentially target genes that are essential for proliferation and survival of hematopoietic progenitors. Acquired copy number alterations (CNAs) were detected in 49% of cases with losses found in two or more cases affecting, for example, chromosome bands 3p13-p14.1 and 12p13. Furthermore, we identified two cases with a cryptic t(6;11) as well as several non-recurrent aberrations pointing to leukemia-relevant regions. With regard to clinical outcome, there seemed to be an association between UPD 11p and UPD 13q cases with overall survival. These data show the potential of high-resolution SNP analysis for identifying genomic regions of potential pathogenic and clinical relevance in AML.
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