PMID- 20815030
OWN - NLM
STAT- MEDLINE
DCOM- 20110202
LR  - 20191210
IS  - 1098-2264 (Electronic)
IS  - 1045-2257 (Linking)
VI  - 49
IP  - 12
DP  - 2010 Dec
TI  - Evaluation of multiplex ligation-dependent probe amplification as a method for 
      the detection of copy number abnormalities in B-cell precursor acute 
      lymphoblastic leukemia.
PG  - 1104-13
LID - 10.1002/gcc.20818 [doi]
AB  - Recent genomic studies have shown that copy number abnormalities (CNA) of genes 
      involved in lymphoid differentiation and cell cycle control are common in B-cell 
      precursor acute lymphoblastic leukemia (BCP-ALL). We have evaluated Multiplex 
      Ligation-dependent Probe Amplification (MLPA) on 43 BCP-ALL patients for the 
      detection of the most common deletions among these genes and compared the results 
      to those obtained by fluorescence in situ hybridization (FISH) and genomic 
      quantitative PCR (qPCR). There was good correlation between methods for CDKN2A/B, 
      IKZF1, and PAX5 deletions in the majority of cases and MLPA confirmed the 
      presence of deletions within the PAR1 region in two of three cases identified by 
      FISH. Small intragenic aberrations detected by MLPA, which were below the 
      resolution of FISH for CDKN2A/B (n = 7), IKZF1 (n = 3), and PAX5 (n = 3) were 
      confirmed by qPCR. MLPA and qPCR were unable to detect populations present at a 
      low level (<20%) by FISH. In addition, although MLPA identified the presence of a 
      deletion, it was unable to discern the presence of mixed cell populations which 
      had been identified by FISH: CDKN2A/B (n = 3), IKZF1 (n = 1), PAX5 (n = 2), and 
      PAR1 deletion (n = 1). Nevertheless, this study has demonstrated that MLPA is a 
      robust technique for the reliable detection of CNA involving multiple targets in 
      a single test and thus is ideal for rapid high throughput testing of large 
      cohorts with a view to establishing incidence and prognostic significance.
CI  - (c) 2010 Wiley-Liss, Inc.
FAU - Schwab, C J
AU  - Schwab CJ
AD  - Leukaemia Research Cytogenetics Group, Northern Institute for Cancer Research, 
      Newcastle University, Royal Victoria Infirmary, Newcastle upon Tyne, UK.
FAU - Jones, L R
AU  - Jones LR
FAU - Morrison, H
AU  - Morrison H
FAU - Ryan, S L
AU  - Ryan SL
FAU - Yigittop, H
AU  - Yigittop H
FAU - Schouten, J P
AU  - Schouten JP
FAU - Harrison, C J
AU  - Harrison CJ
LA  - eng
PT  - Evaluation Study
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Genes Chromosomes Cancer
JT  - Genes, chromosomes & cancer
JID - 9007329
RN  - 0 (DNA Probes)
RN  - 0 (PAX5 Transcription Factor)
RN  - 0 (PAX5 protein, human)
RN  - 0 (Transcription Factors)
RN  - 148971-36-2 (Ikaros Transcription Factor)
SB  - IM
MH  - Cell Cycle
MH  - Comparative Genomic Hybridization/methods
MH  - Cytogenetic Analysis/*methods
MH  - *DNA Copy Number Variations
MH  - DNA Probes
MH  - Gene Dosage
MH  - Genes, cdc
MH  - Genes, p16
MH  - Humans
MH  - Ikaros Transcription Factor/genetics
MH  - In Situ Hybridization, Fluorescence/methods
MH  - Karyotyping/methods
MH  - Lymphocytes
MH  - *Molecular Probe Techniques
MH  - Nucleic Acid Amplification Techniques/*methods
MH  - PAX5 Transcription Factor/genetics
MH  - Polymerase Chain Reaction/*methods
MH  - Precursor B-Cell Lymphoblastic Leukemia-Lymphoma/*genetics
MH  - Sensitivity and Specificity
MH  - Transcription Factors/genetics
EDAT- 2010/09/04 06:00
MHDA- 2011/02/03 06:00
CRDT- 2010/09/04 06:00
PHST- 2010/09/04 06:00 [entrez]
PHST- 2010/09/04 06:00 [pubmed]
PHST- 2011/02/03 06:00 [medline]
AID - 10.1002/gcc.20818 [doi]
PST - ppublish
SO  - Genes Chromosomes Cancer. 2010 Dec;49(12):1104-13. doi: 10.1002/gcc.20818.