ArticleThe Journal of molecular diagnostics : JMD2010
Array-based karyotyping for prognostic assessment in chronic lymphocytic leukemia: performance comparison of Affymetrix 10K2.0, 250K Nsp, and SNP6.0 arrays.
Article in The Journal of molecular diagnostics : JMD, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers, 1 of them a synthesis that pooled it.
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20 citing papers in PubMed, 1 synthesis or guideline pooled it, 52 citations in OpenAlex.
- American College of Medical Genetics and Genomics technical standards and guidelines: microarray analysis for chromosome abnormalities in neoplastic disorders.Genetics in medicine : official journal of the American College of Medical Genetics · 2013Guideline
- Identification of copy neutral loss of heterozygosity on chromosomes 1p, 1q, and 6p among nonsyndromic cleft lip and/or without cleft palate with hypodontia.BMC oral health · 2023Article
- Allele-specific genomic data elucidate the role of somatic gain and copy-number neutral loss of heterozygosity in cancer.Cell systems · 2022Article
- Genomic arrays identify high-risk chronic lymphocytic leukemia with genomic complexity: a multi-center study.Haematologica · 2021Article
- 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
- Section E6.1-6.4 of the ACMG technical standards and guidelines: chromosome studies of neoplastic blood and bone marrow-acquired chromosomal abnormalities.Genetics in medicine : official journal of the American College of Medical Genetics · 2016Article
- Detection of chromothripsis-like patterns with a custom array platform for chronic lymphocytic leukemia.Genes, chromosomes & cancer · 2015Article
- Assessment of Esophageal Adenocarcinoma Risk Using Somatic Chromosome Alterations in Longitudinal Samples in Barrett's Esophagus.Cancer prevention research (Philadelphia, Pa.) · 2015Article
- Copy neutral loss of heterozygosity in 20q in chronic lymphocytic leukemia/small lymphocytic lymphoma.Cancer genetics · 2014Article
- Identification of prognostic relevant chromosomal abnormalities in chronic lymphocytic leukemia using microarray-based genomic profiling.Molecular cytogenetics · 2014Article
- Clinical application of targeted and genome-wide technologies: can we predict treatment responses in chronic lymphocytic leukemia?Personalized medicine · 2013Article
- Genomic approaches to chronic lymphocytic leukemia.Hematology/oncology clinics of North America · 2013Review
- Age-related somatic structural changes in the nuclear genome of human blood cells.American journal of human genetics · 2012Article
- Evaluation of chronic lymphocytic leukemia by oligonucleotide-based microarray analysis uncovers novel aberrations not detected by FISH or cytogenetic analysis.Molecular cytogenetics · 2011Article
- Renal cell carcinoma primary cultures maintain genomic and phenotypic profile of parental tumor tissues.BMC cancer · 2011Article
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- Evaluation of chronic lymphocytic leukemia by BAC-based microarray analysis.Molecular cytogenetics · 2011Article
- The vanguard has arrived in the clinical laboratory: array-based karyotyping for prognostic markers in chronic lymphocytic leukemia.The Journal of molecular diagnostics : JMD · 2010Article
- Acquired chromosomal anomalies in chronic lymphocytic leukemia patients compared with more than 50,000 quasi-normal participants.Cancer geneticsArticle
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Authors and funding
6 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Specific chromosomal alterations are recognized as important prognostic factors in chronic lymphocytic leukemia (CLL). Array-based karyotyping is gaining acceptance as an alternative to the standard fluorescence in situ hybridization (FISH) panel for detecting these aberrations. This study explores the optimum single nucleotide polymorphism (SNP) array probe density for routine clinical use, presents clinical validation results for the 250K Nsp Affymetrix SNP array, and highlights clinically actionable genetic lesions missed by FISH and conventional cytogenetics. CLL samples were processed on low (10K2.0), medium (250K Nsp), and high (SNP6.0) probe density Affymetrix SNP arrays. Break point definition and detection rates for clinically relevant genetic lesions were compared. The 250K Nsp array was subsequently validated for routine clinical use and demonstrated 98.5% concordance with the standard CLL FISH panel. SNP array karyotyping detected genomic complexity and/or acquired uniparental disomy not detected by the FISH panel. In particular, a region of acquired uniparental disomy on 17p was shown to harbor two mutated copies of TP53 that would have gone undetected by FISH, conventional cytogenetics, or array comparative genomic hybridization. SNP array karyotyping allows genome-wide, high resolution detection of copy number and uniparental disomy at genomic regions with established prognostic significance in CLL, detects lesions missed by FISH, and provides insight into gene dosage at these loci.
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