Genomic profiling of plasma cell disorders in a clinical setting: integration of microarray and FISH, after CD138 selection of bone marrow
| Autor: | Anoop K Enjeti, Nadine K. Berry, Philip A. Rowlings, Nicole L Bain |
|---|---|
| Rok vydání: | 2013 |
| Předmět: |
Male
Microarray Karyotype Paraproteinemias Plasma cell dyscrasia Bone Marrow Cells Fluorescent In Situ Hybridisation Myeloma Biology Genome Pathology and Forensic Medicine Plasma Cell Dyscrasia medicine Humans In Situ Hybridization Fluorescence Oligonucleotide Array Sequence Analysis Comparative Genomic Hybridization Microarray analysis techniques Gene Expression Profiling General Medicine Microarray Analysis medicine.disease Molecular biology Gene expression profiling genomic DNA Female Original Article Syndecan-1 Virtual karyotype Comparative genomic hybridization |
| Zdroj: | Journal of Clinical Pathology |
| ISSN: | 1472-4146 0021-9746 |
| DOI: | 10.1136/jclinpath-2013-201691 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|