ArticleLeukemia research2010
FISH and SNP-A karyotyping in myelodysplastic syndromes: improving cytogenetic detection of del(5q), monosomy 7, del(7q), trisomy 8 and del(20q).
Article in Leukemia research, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers, 1 of them a synthesis that pooled it.
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Who cites it
18 citing papers in PubMed, 1 synthesis or guideline pooled it, 65 citations in OpenAlex.
- Non-del(5q) myelodysplastic syndromes-associated loci detected by SNP-array genome-wide association meta-analysis.Blood advances · 2019Pooled it
- Combining metaphase cytogenetics with single nucleotide polymorphism arrays can improve the diagnostic yield and identify prognosis more precisely in myelodysplastic syndromes.Annals of medicine · 2022Article
- Myelodysplastic syndrome presenting with central diabetes insipidus is associated with monosomy 7, visible or hidden: report of two cases and literature review.Molecular cytogenetics · 2021Article
- Article
- Chromosomal Abnormalities in Myelodysplastic Syndrome Patients in Upper Northern Thailand.Asian Pacific journal of cancer prevention : APJCP · 2020Article
- Evaluation of the utility of peripheral blood vs bone marrow in karyotype and fluorescence in situ hybridization for myelodysplastic syndrome diagnosis.Journal of clinical laboratory analysis · 2018Article
- Article
- Capture Hi-C identifies the chromatin interactome of colorectal cancer risk loci.Nature communications · 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
- Cytogenetic as an important tool for diagnosis and prognosis for patients with hypocellular primary myelodysplastic syndrome.BioMed research international · 2014Article
- There's risk, and then there's risk: The latest clinical prognostic risk stratification models in myelodysplastic syndromes.Current hematologic malignancy reports · 2013Review
- DOCK4 deletion at 7q31.1 in a de novo acute myeloid leukemia with a normal karyotype.Cellular oncology (Dordrecht, Netherlands) · 2013Article
- Longitudinal bone marrow evaluations for myelodysplasia in patients with myeloma before and after treatment with lenalidomide.Leukemia & lymphoma · 2013Article
- Multiple mechanisms deregulate EZH2 and histone H3 lysine 27 epigenetic changes in myeloid malignancies.Leukemia · 2013Article
- The need for additional genetic markers for myelodysplastic syndrome stratification: what does the future hold for prognostication?Expert review of hematology · 2013Review
- Efficacy and safety of lenalidomide in patients with myelodysplastic syndrome with chromosome 5q deletion.Therapeutic advances in hematology · 2012Article
- Cytogenetic and molecular predictors of response in patients with myeloid malignancies without del[5q] treated with lenalidomide.Journal of hematology & oncology · 2012Article
- Article
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10 authors at 2 institutions in 3 countries.
Funding
Abstract
Cytogenetic aberrations identified by metaphase cytogenetics (MC) have important diagnostic, prognostic and therapeutic roles in myelodysplastic syndromes (MDS). Fluorescence in situ hybridization (FISH) complements MC by the ability to evaluate large numbers of both interphase and metaphase nuclei. However, clinically practical FISH strategies are limited to detection of known lesions. Single nucleotide polymorphism array (SNP-A)-based karyotyping can reveal unbalanced defects with superior resolution over MC and FISH and identify segmental uniparental disomy (UPD) undetectable by either method. Using a standardized approach, we focused our investigation on detection of -5/del(5q), -7/del(7q), trisomy 8 and del(20q) in patients with MDS (N=52), MDS/myeloproliferative overlap syndromes (N=7) and acute myeloid leukemia (N=15) using MC, FISH and SNP-A karyotyping. The detection rate for del(5q) was 30, 32 and 32% by MC, FISH, and SNP-A, respectively. No single method detected all defects, and detection rates improved when all methods were used. The rate for detection of del(5q) increased incrementally to 35% (MC+FISH), 38% (MC+SNP-A), 38% (FISH+SNP-A) and 39% (all three methods). Similar findings were observed for -7/del(7q), trisomy 8 and -20/del(20q). We conclude that MC, FISH and SNP-A are complementary techniques that, when applied and interpreted together, can improve the diagnostic yield for identifying genetic lesions in MDS and contribute to the better description of abnormal karyotypes.
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