ArticleMolecular cytogenetics2011
Evidence-based genomic diagnosis characterized chromosomal and cryptic imbalances in 30 elderly patients with myelodysplastic syndrome and acute myeloid leukemia.
Article in Molecular cytogenetics, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
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Who cites it
19 citing papers in PubMed, 47 citations in OpenAlex.
- The Functional Interaction Between Epstein-Barr Virus and MYC in the Pathogenesis of Burkitt Lymphoma.Cancers · 2024Review
- MYC directly transactivates CR2/CD21, the receptor of the Epstein-Barr virus, enhancing the viral infection of Burkitt lymphoma cells.Oncogene · 2023Article
- P53 IHC Result as a Prognostic Tool in MDS.Iranian journal of pathology · 2023Article
- Correlating genomic copy number alterations with clinicopathologic findings in 75 cases of hepatocellular carcinoma.BMC medical genomics · 2021Article
- Frequency and Correlation of Common Genes Copy Number Alterations in Childhood Acute Lymphoblastic Leukemia with Prognosis.Asian Pacific journal of cancer prevention : APJCP · 2020Article
- Molecular and clinicopathologic characterization of intravenous leiomyomatosis.Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc · 2020Article
- Cytogenomic Abnormalities in 19 Cases of Salivary Gland Tumors of Parotid Gland Origin.Case reports in genetics · 2020Article
- Jumping Translocations of 1q in Myelodysplastic Syndrome and Acute Myeloid Leukemia: Report of Three Cases and Review of Literature.Case reports in genetics · 2018Article
- Myelodysplastic syndromes: advantages of a combined cytogenetic and molecular diagnostic workup.Oncotarget · 2017Article
- 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
- Microarray-based genomic profiling and in situ hybridization on fibrotic bone marrow biopsies for the identification of numerical chromosomal abnormalities in myelodysplastic syndrome.Molecular cytogenetics · 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
- DOCK4 deletion at 7q31.1 in a de novo acute myeloid leukemia with a normal karyotype.Cellular oncology (Dordrecht, Netherlands) · 2013Article
- MYC oncogene in myeloid neoplasias.Clinical & translational oncology : official publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico · 2013Review
- ETV6 deletion is a common additional abnormality in patients with myelodysplastic syndromes or acute myeloid leukemia and monosomy 7.Haematologica · 2012Article
- Chromosome anomalies in bone marrow as primary cause of aplastic or hypoplastic conditions and peripheral cytopenia: disorders due to secondary impairment of RUNX1 and MPL genes.Molecular cytogenetics · 2012Article
- Comparative genomic hybridization on microarray (a-CGH) in constitutional and acquired mosaicism may detect as low as 8% abnormal cells.Molecular cytogenetics · 2011Article
Corrections and comments
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Authors and funding
9 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundTo evaluate the clinical validity of genome-wide oligonucleotide array comparative genomic hybridization (aCGH) for detecting somatic abnormalities, we have applied this genomic analysis to 30 cases (13 MDS and 17 AML) with clonal chromosomal abnormalities detected in more than 50% of analyzed metaphase cells.
resultsThe aCGH detected all numerical chromosomal gains and losses from the mainline clones and 113 copy number alterations (CNAs) ranging from 0.257 to 102.519 megabases (Mb). Clinically significant recurrent deletions of 5q (involving the RPS14 gene), 12p12.3 (ETV6 gene), 17p13 (TP53 gene), 17q11.2 (NF1 gene) and 20q, double minutes containing the MYC gene and segmental amplification involving the MLL gene were further characterized with defined breakpoints and gene contents. Genomic features of microdeletions at 17q11.2 were confirmed by FISH using targeted BAC clones. The aCGH also defined break points in a derivative chromosome 6, der(6)t(3;6)(q21.3;p22.2), and an isodicentric X chromosome. However, chromosomally observed sideline clonal abnormalities in five cases were not detected by aCGH.
conclusionsOur data indicated that an integrated cytogenomic analysis will be a better diagnostic scheme to delineate genomic contents of chromosomal and cryptic abnormalities in patients with MDS and AML. An evidence-based approach to interpret somatic genomic findings was proposed.
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