Linked Life Data

21356189

Source:http://linkedlifedata.com/resource/pubmed/id/21356189

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
1
pubmed:dateCreated
2011-3-1
pubmed:abstractText
Single nucleotide polymorphism-based oligonucleotide arrays have been used as a research tool to detect genomic copy number changes and allelic imbalance in a variety of hematologic malignancies and solid tumors. The high resolution, genome-wide coverage, minimal DNA requirements, and relatively short turnaround time are advantageous for use in a clinical setting. We validated the Illumina HumanHap550 BeadChip array for clinical use by analyzing 127 pediatric leukemia and lymphoma samples that had previously been characterized by means of standard cytogenetic analysis and fluorescence in situ hybridization. A higher resolution Illumina HumanHap610 BeadChip array was ultimately used for clinical testing. To date, 180 samples from children with a suspected or confirmed hematologic malignancy have been analyzed. Of the 180 clinical samples, 130 (72%) bone marrow or lymphoma specimens had aberrations revealed by the array that were not seen in the karyotypes. These typically included deletions in genes associated with B- or T-cell malignancies, such as CDKN2A/B, PAX5, and IKZF1. There were also 75 regions of copy number neutral loss of heterozygosity (>5 Mb threshold) detected in 49 samples in this cohort, which could be categorized as constitutional or acquired abnormalities. On the basis of our experience in the last 2 years, we suggest that single nucleotide polymorphism arrays are a valuable addition to, but not a replacement for, standard cytogenetic approaches for hematologic malignancies.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Jan
pubmed:issn
2210-7762
pubmed:author
pubmed:copyrightInfo
Copyright © 2011 Elsevier Inc. All rights reserved.
pubmed:issnType
Print
pubmed:volume
204
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
26-38
pubmed:meshHeading
pubmed-meshheading:21356189-Basic Helix-Loop-Helix Transcription Factors, pubmed-meshheading:21356189-Cyclin-Dependent Kinase Inhibitor p15, pubmed-meshheading:21356189-Cyclin-Dependent Kinase Inhibitor p16, pubmed-meshheading:21356189-DNA Mutational Analysis, pubmed-meshheading:21356189-DNA-Binding Proteins, pubmed-meshheading:21356189-Gene Deletion, pubmed-meshheading:21356189-Gene Dosage, pubmed-meshheading:21356189-Genome-Wide Association Study, pubmed-meshheading:21356189-Hematologic Neoplasms, pubmed-meshheading:21356189-Humans, pubmed-meshheading:21356189-Karyotyping, pubmed-meshheading:21356189-Models, Genetic, pubmed-meshheading:21356189-Oligonucleotide Array Sequence Analysis, pubmed-meshheading:21356189-Polymorphism, Single Nucleotide, pubmed-meshheading:21356189-Prognosis, pubmed-meshheading:21356189-Prospective Studies, pubmed-meshheading:21356189-Proto-Oncogene Proteins, pubmed-meshheading:21356189-Translocation, Genetic
pubmed:year
2011
pubmed:articleTitle
Implementation of high resolution single nucleotide polymorphism array analysis as a clinical test for patients with hematologic malignancies.
pubmed:affiliation
Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.
pubmed:publicationType
Journal Article