Array-Based Karyotyping in Plasma Cell Neoplasia After Plasma Cell Enrichment Increases Detection of Genomic Aberrations

作者：Zehentner Barbara K^*; Hartmann Luise; Johnson Krystal R; Stephenson Christine F; Chapman Douglas B; de Baca Monica E; Wells Denise A; Loken Michael R; Tirtorahardjo Budi; Gunn Shelly R; Lim Lony

来源：American Journal of Clinical Pathology, 2012, 138(4): 579-589.

DOI：10.1309/AJCPKW31BAIMVGST

• Plasma cell neoplasm
• Copy number abnormalities
• Array comparative genomic hybridization
• Plasma cell enrichment

The discovery of genomic abnormalities present in monoclonal plasma cells has diagnostic, prognostic, and disease-monitoring implications in plasma cell neoplasms (PCNs). However, technical and disease-related limitations hamper the detection of these abnormalities using cytogenetic analysis or fluorescence in situ hybridization (FISH). In this study, 28 bone marrow specimens with known PCNs were examined for the presence of genomic abnormalities using microarray analysis after plasma cell enrichment. Cytogenetic analysis was performed on 15 of 28 samples, revealing disease-related genomic aberrations in only 3 (20%) of 15 cases. FISH analysis was performed on enriched plasma cells and detected aberrations in 84.6% of specimens while array comparative genomic hybridization (aCGH) detected abnormalities in 89.3% of cases. Furthermore, aCGH revealed additional abnormalities in 24 cases compared with FISH alone. We conclude that aCGH after plasma cell enrichment, in combination with FISH, is a valuable approach for routine clinical use in achieving a more complete genetic characterization of patients with PCN.

• 出版日期2012-10