title: Array-based karyotyping in plasma cell neoplasia after plasma cell enrichment increases detection of genomic aberrations.
abstract: 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.
authors.affiliation: Hematologics Inc, 3161 Elliott Ave, Ste 200, Seattle, WA 98121, USA. Barbara@hematologics.com
authors.forename: Barbara K
authors.initials: BK
authors.lastname: Zehentner
authors.forename: Luise
authors.initials: L
authors.lastname: Hartmann
authors.forename: Krystal R
authors.initials: KR
authors.lastname: Johnson
authors.forename: Christine F
authors.initials: CF
authors.lastname: Stephenson
authors.forename: Douglas B
authors.initials: DB
authors.lastname: Chapman
authors.forename: Monica E
authors.initials: ME
authors.lastname: de Baca
authors.forename: Denise A
authors.initials: DA
authors.lastname: Wells
authors.forename: Michael R
authors.initials: MR
authors.lastname: Loken
authors.forename: Budi
authors.initials: B
authors.lastname: Tirtorahardjo
authors.forename: Shelly R
authors.initials: SR
authors.lastname: Gunn
authors.forename: Lony
authors.initials: L
authors.lastname: Lim
mesh_terms: D000368:Aged; D000369:Aged, 80 and over; D001854:Bone Marrow Cells; D002469:Cell Separation; D002869:Chromosome Aberrations; D055028:Comparative Genomic Hybridization / Q000379:methods*; D004273:DNA, Neoplasm / Q000235:genetics; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence / Q000379:methods*; D007621:Karyotyping / Q000379:methods*; D008297:Male; D008875:Middle Aged; D054219:Neoplasms, Plasma Cell / Q000175:diagnosis / Q000235:genetics*; D010950:Plasma Cells / Q000473:pathology*
chemical_list: D004273:DNA, Neoplasm