Use of plasma DNA in detection of loss of heterozygosity in patients with multiple myeloma

Maha Ahmed, Francis Giles, Youngson Joe, Donna M. Weber, Iman Jilani, Taghi Manshouri, Sergio Giralt, Marcos De Lima, Michael Keating, Maher Albitar*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

12 Scopus citations

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. Objectives: 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. Conclusion: 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.

Original languageEnglish (US)
Pages (from-to)174-178
Number of pages5
JournalEuropean Journal of Haematology
Volume71
Issue number3
DOIs
StatePublished - Sep 1 2003

Keywords

  • 11q
  • 13q
  • Loss of heterozygosity
  • Microsatellite markers
  • Myeloma
  • Plasma
  • Polymerase chain reaction

ASJC Scopus subject areas

  • Hematology

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