PMID- 22429597
OWN - NLM
STAT- MEDLINE
DCOM- 20120507
LR  - 20191210
IS  - 2210-7762 (Print)
VI  - 205
IP  - 1-2
DP  - 2012 Jan-Feb
TI  - Clinical utilization of high-resolution single nucleotide polymorphism based 
      oligonucleotide arrays in diagnostic studies of pediatric patients with solid 
      tumors.
PG  - 42-54
LID - 10.1016/j.cancergen.2012.01.014 [doi]
AB  - High-resolution single nucleotide polymorphism (SNP) arrays have been effectively 
      implemented as a first tier test in clinical cytogenetics laboratories for the 
      detection of constitutional chromosomal abnormalities in patients with suspected 
      genomic disorders. We recently published our experience utilizing SNP array 
      analysis of bone marrow aspirates as a clinical test for patients with suspected 
      leukemia or lymphoma in the Clinical Cancer Cytogenetics Laboratory at The 
      Children's Hospital of Philadelphia. In the present report we summarize our 
      clinical experience using the Illumina HumanHap610 BeadChip array (Illumina, San 
      Diego, CA) for whole genome analysis of pediatric solid tumors. A total of 168 
      DNA samples isolated from a variety of solid tumors, including brain tumors, 
      sarcomas, neuroblastomas, and Wilms tumors, as well as benign neoplasms and 
      reactive processes, were analyzed over a 2 1/2 year period. One hundred 
      thirty-seven of 168 (82%) specimens had at least one copy number alteration or 
      region of loss of heterozygosity detected by the SNP array. Thirty-three of 168 
      (20%) of cases had a normal karyotype or targeted fluorescence in situ 
      hybridization (FISH) study, but had an abnormal finding by the array analysis. 
      Sixty-three of 168 (37%) samples for which cytogenetic studies were unsuccessful 
      or not performed demonstrated an abnormal array result. In 44 of 168 cases (26%) 
      the array and karyotype or FISH were abnormal, but each demonstrated alterations 
      not detected by the other methodology. Based on our experience in the last 2 1/2 
      years, we suggest that SNP array analysis can be used as a first tier clinical 
      test for the majority of pediatric solid tumors.
CI  - Copyright (c) 2012 Elsevier Inc. All rights reserved.
FAU - Dougherty, Margaret J
AU  - Dougherty MJ
AD  - Division of Human Genetics, Department of Pediatrics, The Children's Hospital of 
      Philadelphia, Philadelphia, PA, USA.
FAU - Tooke, Laura S
AU  - Tooke LS
FAU - Sullivan, Lisa M
AU  - Sullivan LM
FAU - Hakonarson, Hakon
AU  - Hakonarson H
FAU - Wainwright, Luanne M
AU  - Wainwright LM
FAU - Biegel, Jaclyn A
AU  - Biegel JA
LA  - eng
PT  - Evaluation Study
PT  - Journal Article
PL  - United States
TA  - Cancer Genet
JT  - Cancer genetics
JID - 101539150
SB  - IM
MH  - Child
MH  - Child, Preschool
MH  - Chromosome Aberrations/statistics & numerical data
MH  - Cytogenetic Analysis/methods/statistics & numerical data
MH  - Female
MH  - Gene Dosage
MH  - Gene Expression Profiling/methods/statistics & numerical data
MH  - High-Throughput Screening Assays/methods/*statistics & numerical data
MH  - Humans
MH  - Karyotyping/methods
MH  - Loss of Heterozygosity
MH  - Male
MH  - Medical Oncology/methods/*statistics & numerical data/trends
MH  - Molecular Diagnostic Techniques/methods/statistics & numerical data
MH  - Neoplasms/*diagnosis/genetics
MH  - Oligonucleotide Array Sequence Analysis/methods/*statistics & numerical data
MH  - Pediatrics/methods/statistics & numerical data
MH  - *Polymorphism, Single Nucleotide/physiology
MH  - Prognosis
MH  - Retrospective Studies
EDAT- 2012/03/21 06:00
MHDA- 2012/05/09 06:00
CRDT- 2012/03/21 06:00
PHST- 2011/09/21 00:00 [received]
PHST- 2012/01/29 00:00 [revised]
PHST- 2012/01/30 00:00 [accepted]
PHST- 2012/03/21 06:00 [entrez]
PHST- 2012/03/21 06:00 [pubmed]
PHST- 2012/05/09 06:00 [medline]
AID - S2210-7762(12)00043-9 [pii]
AID - 10.1016/j.cancergen.2012.01.014 [doi]
PST - ppublish
SO  - Cancer Genet. 2012 Jan-Feb;205(1-2):42-54. doi: 10.1016/j.cancergen.2012.01.014.