title: Oligo-based High-resolution aCGH Analysis Enhances Routine Cytogenetic Diagnostics in Haematological Malignancies.
abstract: BACKGROUND
  The purpose of the present study was to evaluate the detection rate of genomic aberrations in haematological malignancies using oligobased array-CGH (oaCGH) analysis in combination with karyotyping and fluorescence in situ hybridization (FISH) analyses, and its feasibility in a clinical pragmatic approach.
  
  
  METHODS
  The 4x180K Cancer Cytochip array was applied in 96 patients with various haematological malignancies in a prospective setting and in 41 acute myeloid leukemia (AML) patients retrospectively.
  
  
  RESULTS
  Combined use of oaCGH analysis and karyotyping improved the overall detection rate in comparison to karyotyping-alone and vice versa. In cases with normal karyotypes oaCGH analysis detected genomic aberrations in 66% (39/60) of cases. In the group of simple karyotypes oaCGH analysis extended karyotypic findings in 39% (12/31) while oaCGH analysis extended the karyotypic findings in 89% (39/44) of cases with complex karyotypes. In 7% (5/75) of cases oaCGH analysis failed in detecting the observed abnormalities by karyotyping.
  
  
  CONCLUSIONS
  oaCGH analysis is a valuable asset in routine cytogenetics of haematological malignancies.
authors.affiliation: HaemoDiagnostic Laboratory, Cancer Cytogenetics Section, Department of Hematology, Aarhus University Hospital, Aarhus, Denmark Eigil.Kjeldsen@clin.au.dk.
authors.forename: Eigil
authors.initials: E
authors.lastname: Kjeldsen
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D002869:Chromosome Aberrations; D002871:Chromosome Banding; D055028:Comparative Genomic Hybridization; D003582:Cytogenetics / Q000379:methods*; D005260:Female; D015321:Gene Rearrangement; D019337:Hematologic Neoplasms / Q000175:diagnosis* / Q000235:genetics*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D015470:Leukemia, Myeloid, Acute / Q000175:diagnosis* / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D020411:Oligonucleotide Array Sequence Analysis; D011446:Prospective Studies; D012189:Retrospective Studies
keywords: FISH; Haematological malignancy; aCGH; chromothripsis; karyotyping