title: Use of plasma DNA in detection of loss of heterozygosity in patients with multiple myeloma.
abstract: BACKGROUND
  Deletions or structural abnormalities in chromosomes 11 and 13 have been shown to be important in predicting clinical behavior in patients with multiple myeloma (MM). However, cytogenetic analysis in MM is frequently difficult because of poor yield of informative metaphases and the disease is frequently patchy, which complicates fluorescent in situ hybridization studies.
  
  
  OBJECTIVE
  The purpose of this study was to explore the potential of using peripheral plasma DNA for the detection of loss of heterozygosity (LOH) in chromosomes 11 and 13 in patients with MM.
  
  
  METHODS
  Peripheral blood (PB) plasma of 81 patients with MM, was used as a source of DNA for the detection of LOH at chromosomes 13q14 (D13S319 and D13AFMaw301wb5), and 11q21 (D11S2179) using polymerase chain reaction.
  
  
  RESULTS
  Only 62 of the studied patients were informative for the two 13q microsatellite markers and 16 (26%) of these patients showed LOH. Only seven (11%) of 61 patients with informative D11S2179 microsatellite maker showed LOH. Purified plasma cells (PCs) from six bone marrow (BM) samples using anti-CD138-coated magnetic beads showed identical results to those detected in DNA isolated from PB plasma. Three patients with LOH underwent autologous BM transplantation, and two of three reverted to a normal state (no LOH) after transplantation. Seven of the patients with 13q LOH in PB plasma had <10% PCs (PCs) in their BM at the time of testing.
  
  
  CONCLUSIONS
  PB plasma appears to be enriched by tumor-specific DNA and can be used to detect chromosomal abnormalities in patients with MM. Further studies are needed to establish the clinical relevance of this approach in comparison with other techniques.
authors.affiliation: Department of Hematopathology, M.D. Anderson Cancer Center, The University of Texas, Houston, TX 77030-4095, USA.
authors.forename: Maha
authors.initials: M
authors.lastname: Ahmed
authors.forename: Francis
authors.initials: F
authors.lastname: Giles
authors.forename: Youngson
authors.initials: Y
authors.lastname: Joe
authors.forename: Donna M
authors.initials: DM
authors.lastname: Weber
authors.forename: Iman
authors.initials: I
authors.lastname: Jilani
authors.forename: Taghi
authors.initials: T
authors.lastname: Manshouri
authors.forename: Sergio
authors.initials: S
authors.lastname: Giralt
authors.forename: Marcos
authors.initials: M
authors.lastname: De Lima
authors.forename: Michael
authors.initials: M
authors.lastname: Keating
authors.forename: Maher
authors.initials: M
authors.lastname: Albitar
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D002880:Chromosomes, Human, Pair 11; D002882:Chromosomes, Human, Pair 13; D004247:DNA / Q000097:blood*; D017353:Gene Deletion; D006579:Heterozygote; D006801:Humans; D019656:Loss of Heterozygosity; D018895:Microsatellite Repeats; D008875:Middle Aged; D009101:Multiple Myeloma / Q000097:blood / Q000235:genetics*; D016133:Polymerase Chain Reaction; D011379:Prognosis
chemical_list: D004247:DNA