PMID- 21882283
OWN - NLM
STAT- MEDLINE
DCOM- 20120413
LR  - 20111011
IS  - 1098-2264 (Electronic)
IS  - 1045-2257 (Linking)
VI  - 50
IP  - 12
DP  - 2011 Dec
TI  - Microarray-based genomic profiling as a diagnostic tool in acute lymphoblastic 
      leukemia.
PG  - 969-81
LID - 10.1002/gcc.20919 [doi]
AB  - In acute lymphoblastic leukemia (ALL) specific genomic abnormalities provide 
      important clinical information. In most routine clinical diagnostic laboratories 
      conventional karyotyping, in conjunction with targeted screens using e.g., 
      fluorescence in situ hybridization (FISH), is currently considered as the gold 
      standard to detect such aberrations. Conventional karyotyping, however, is 
      limited in its resolution and yield, thus hampering the genetic diagnosis of ALL. 
      We explored whether microarray-based genomic profiling would be feasible as an 
      alternative strategy in a routine clinical diagnostic setting. To this end, we 
      compared conventional karyotypes with microarray-deduced copy number aberration 
      (CNA) karyotypes in 60 ALL cases. Microarray-based genomic profiling resulted in 
      a CNA detection rate of 90%, whereas for conventional karyotyping this was 61%. 
      In addition, many small (< 5 Mb) genetic lesions were encountered, frequently 
      harboring clinically relevant ALL-related genes such as CDKN2A/B, ETV6, PAX5, and 
      IKZF1. From our data we conclude that microarray-based genomic profiling serves 
      as a robust tool in the genetic diagnosis of ALL, outreaching conventional 
      karyotyping in CNA detection both in terms of sensitivity and specificity. We 
      also propose a practical workflow for a comprehensive and objective 
      interpretation of CNAs obtained through microarray-based genomic profiling, 
      thereby facilitating its application in a routine clinical diagnostic setting.
CI  - Copyright (c) 2011 Wiley Periodicals, Inc.
FAU - Simons, Annet
AU  - Simons A
AD  - Department of Human Genetics, Radboud University Nijmegen Medical Centre, Radboud 
      University Centre for Oncology, Nijmegen, The Netherlands. a.simons@antrg.umcn.nl
FAU - Stevens-Kroef, Marian
AU  - Stevens-Kroef M
FAU - El Idrissi-Zaynoun, Najat
AU  - El Idrissi-Zaynoun N
FAU - van Gessel, Sabine
AU  - van Gessel S
FAU - Weghuis, Daniel Olde
AU  - Weghuis DO
FAU - van den Berg, Eva
AU  - van den Berg E
FAU - Waanders, Esme
AU  - Waanders E
FAU - Hoogerbrugge, Peter
AU  - Hoogerbrugge P
FAU - Kuiper, Roland
AU  - Kuiper R
FAU - van Kessel, Ad Geurts
AU  - van Kessel AG
LA  - eng
PT  - Journal Article
DEP - 20110831
PL  - United States
TA  - Genes Chromosomes Cancer
JT  - Genes, chromosomes & cancer
JID - 9007329
SB  - IM
MH  - Child
MH  - Chromosome Aberrations
MH  - DNA Fingerprinting/methods
MH  - Female
MH  - Gene Dosage
MH  - Humans
MH  - In Situ Hybridization, Fluorescence/methods
MH  - Karyotyping/methods
MH  - Male
MH  - Oligonucleotide Array Sequence Analysis/*methods
MH  - Polymorphism, Single Nucleotide
MH  - Precursor Cell Lymphoblastic Leukemia-Lymphoma/*diagnosis/*genetics
MH  - Sensitivity and Specificity
EDAT- 2011/09/02 06:00
MHDA- 2012/04/14 06:00
CRDT- 2011/09/02 06:00
PHST- 2011/04/05 00:00 [received]
PHST- 2011/07/14 00:00 [accepted]
PHST- 2011/09/02 06:00 [entrez]
PHST- 2011/09/02 06:00 [pubmed]
PHST- 2012/04/14 06:00 [medline]
AID - 10.1002/gcc.20919 [doi]
PST - ppublish
SO  - Genes Chromosomes Cancer. 2011 Dec;50(12):969-81. doi: 10.1002/gcc.20919. Epub 
      2011 Aug 31.