title: Genomic profiling of plasma cell disorders in a clinical setting: integration of microarray and FISH, after CD138 selection of bone marrow.
abstract: OBJECTIVE
  To evaluate the role of whole genome comparative genomic hybridisation microarray (array-CGH) in detecting genomic imbalances as compared to conventional karyotype (GTG-analysis) or myeloma specific fluorescence in situ hybridisation (FISH) panel in a diagnostic setting for plasma cell dyscrasia (PCD).
  
  
  METHODS
  A myeloma-specific interphase FISH (i-FISH) panel was carried out on CD138 PC-enriched bone marrow (BM) from 20 patients having BM biopsies for evaluation of PCD. Whole genome array-CGH was performed on reference (control) and neoplastic (test patient) genomic DNA extracted from CD138 PC-enriched BM and analysed.
  
  
  RESULTS
  Comparison of techniques demonstrated a much higher detection rate of genomic imbalances using array-CGH. Genomic imbalances were detected in 1, 19 and 20 patients using GTG-analysis, i-FISH and array-CGH, respectively. Genomic rearrangements were detected in one patient using GTG-analysis and seven patients using i-FISH, while none were detected using array-CGH. I-FISH was the most sensitive method for detecting gene rearrangements and GTG-analysis was the least sensitive method overall. All copy number aberrations observed in GTG-analysis were detected using array-CGH and i-FISH.
  
  
  CONCLUSIONS
  We show that array-CGH performed on CD138-enriched PCs significantly improves the detection of clinically relevant and possibly novel genomic abnormalities in PCD, and thus could be considered as a standard diagnostic technique in combination with IGH rearrangement i-FISH.
authors: Department of Haematology, Calvary Mater Hospital, , Newcastle, New South Wales, Australia.
authors: Nadine Kaye
authors: NK
authors: Berry
authors: Nicole L
authors: NL
authors: Bain
authors: Anoop K
authors: AK
authors: Enjeti
authors: Philip
authors: P
authors: Rowlings
mesh_terms: D001854:Bone Marrow Cells / Q000378:metabolism; D055028:Comparative Genomic Hybridization / Q000379:methods*; D005260:Female; D020869:Gene Expression Profiling; D006801:Humans; D017404:In Situ Hybridization, Fluorescence / Q000379:methods*; D008297:Male; D020411:Oligonucleotide Array Sequence Analysis / Q000379:methods*; D010265:Paraproteinemias / Q000175:diagnosis* / Q000235:genetics*; D053668:Syndecan-1 / Q000378:metabolism
chemical_list: C508241:SDC1 protein, human; D053668:Syndecan-1
keywords: Fluorescent In Situ Hybridisation; Karyotype; Microarray Analysis; Myeloma; Plasma Cell Dyscrasia
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