- Title
- Genomic profiling of plasma cell disorders in a clinical setting: integration of microarray and FISH, after CD138 selection of bone marrow
- Creator
- Berry, Nadine Kaye; Bain, Nicole L.; Enjeti, Anoop K.; Rowlings, Philip
- Relation
- Journal of Clinical Pathology Vol. 67, Issue 1, p. 66-69
- Publisher Link
- http://dx.doi.org/10.1136/jclinpath-2013-201691
- Publisher
- BMJ Group
- Resource Type
- journal article
- Date
- 2014
- Description
- Aim: 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.
- Subject
- genomic profiling; plasma cell disorders; microarray; FISH; bone marrow
- Identifier
- http://hdl.handle.net/1959.13/1307337
- Identifier
- uon:21399
- Identifier
- ISSN:0021-9746
- Language
- eng
- Full Text
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