Microarray-based genomic profiling as a diagnostic tool in acute lymphoblastic leukemia

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...

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Bibliographic Details
Published in:Genes chromosomes & cancer 2011-12, Vol.50 (12), p.969-981
Main Authors: Simons, Annet, Stevens-Kroef, Marian, Idrissi-Zaynoun, Najat El, van Gessel, Sabine, Weghuis, Daniel Olde, van den Berg, Eva, Waanders, Esmé, Hoogerbrugge, Peter, Kuiper, Roland, van Kessel, Ad Geurts
Format: Article
Language:English
Subjects:
Acute lymphatic leukemia
Child
Chromosome Aberrations
copy number
Data processing
DNA Fingerprinting - methods
Female
Fluorescence in situ hybridization
Gene Dosage
Genetic screening
genomics
Humans
In Situ Hybridization, Fluorescence - methods
Karyotypes
Karyotyping - methods
Male
Oligonucleotide Array Sequence Analysis - methods
Pax5 protein
Polymorphism, Single Nucleotide
Precursor Cell Lymphoblastic Leukemia-Lymphoma - diagnosis
Precursor Cell Lymphoblastic Leukemia-Lymphoma - genetics
Sensitivity and Specificity
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Summary: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 (
ISSN:1045-2257
1098-2264
1098-2264
DOI:10.1002/gcc.20919