ArticleMolecular cytogenetics2010
Assessing karyotype precision by microarray-based comparative genomic hybridization in the myelodysplastic/myeloproliferative syndromes.
Article in Molecular cytogenetics, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed, 29 citations in OpenAlex.
- Impact of copy neutral loss of heterozygosity and total genome aberrations on survival in myelodysplastic syndrome.Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc · 2018Article
- Myelodysplastic syndromes: advantages of a combined cytogenetic and molecular diagnostic workup.Oncotarget · 2017Article
- Review
- Chromothripsis Is a Recurrent Genomic Abnormality in High-Risk Myelodysplastic Syndromes.PloS one · 2016Article
- Relapse after Allogeneic Hematopoietic Cell Transplantation for Myelodysplastic Syndromes: Analysis of Late Relapse Using Comparative Karyotype and Chromosome Genome Array Testing.Biology of blood and marrow transplantation : journal of the American Society for Blood and Marrow Transplantation · 2015Article
- Genomic Copy Number Variations in the Myelodysplastic Syndrome and Acute Myeloid Leukemia Patients with del(5q) and/or -7/del(7q).International journal of medical sciences · 2015Article
- Identification of clinically important chromosomal aberrations in acute myeloid leukemia by array-based comparative genomic hybridization.Leukemia & lymphoma · 2014Article
- Article
- Different loss of material in recurrent chromosome 20 interstitial deletions in Shwachman-Diamond syndrome and in myeloid neoplasms.Molecular cytogenetics · 2013Article
- The need for additional genetic markers for myelodysplastic syndrome stratification: what does the future hold for prognostication?Expert review of hematology · 2013Review
- An interstitial 20q11.21 microdeletion causing mild intellectual disability and facial dysmorphisms.Case reports in genetics · 2013Article
- Updates in cytogenetics and molecular markers in MDS.Current hematologic malignancy reports · 2011Review
- Comparative genomic hybridization on microarray (a-CGH) in constitutional and acquired mosaicism may detect as low as 8% abnormal cells.Molecular cytogenetics · 2011Article
- Evidence-based genomic diagnosis characterized chromosomal and cryptic imbalances in 30 elderly patients with myelodysplastic syndrome and acute myeloid leukemia.Molecular cytogenetics · 2011Article
Corrections and comments
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Authors and funding
11 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundRecent genome-wide microarray-based research investigations have revealed a high frequency of submicroscopic copy number alterations (CNAs) in the myelodysplastic syndromes (MDS), suggesting microarray-based comparative genomic hybridization (aCGH) has the potential to detect new clinically relevant genomic markers in a diagnostic laboratory.
resultsWe performed an exploratory study on 30 cases of MDS, myeloproliferative neoplasia (MPN) or evolving acute myeloid leukemia (AML) (% bone marrow blasts ≤ 30%, range 0-30%, median, 8%) by aCGH, using a genome-wide bacterial artificial chromosome (BAC) microarray. The sample data were compared to corresponding cytogenetics, fluorescence in situ hybridization (FISH), and clinical-pathological findings. Previously unidentified imbalances, in particular those considered submicroscopic aberrations (< 10 Mb), were confirmed by FISH analysis. CNAs identified by aCGH were concordant with the cytogenetic/FISH results in 25/30 (83%) of the samples tested. aCGH revealed new CNAs in 14/30 (47%) patients, including 28 submicroscopic or hidden aberrations verified by FISH studies. Cryptic 344-kb RUNX1 deletions were found in three patients at time of AML transformation. Other hidden CNAs involved 3q26.2/EVI1, 5q22/APC, 5q32/TCERG1,12p13.1/EMP1, 12q21.3/KITLG, and 17q11.2/NF1. Gains of CCND2/12p13.32 were detected in two patients. aCGH failed to detect a balanced translocation (n = 1) and low-level clonality (n = 4) in five karyotypically aberrant samples, revealing clinically important assay limitations.
conclusionsThe detection of previously known and unknown genomic alterations suggests that aCGH has considerable promise for identification of both recurring microscopic and submicroscopic genomic imbalances that contribute to myeloid disease pathogenesis and progression. These findings suggest that development of higher-resolution microarray platforms could improve karyotyping in clinical practice.
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Registered trials
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