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Blood, 1 April 2004, Vol. 103, No. 7, pp. 2799-2801.
Prepublished online as a Blood First Edition Paper on October 23, 2003; DOI 10.1182/blood-2003-06-1840.

Submitted June 10, 2003
Accepted October 5, 2003
Relative increase in leukemia-specific DNA in peripheral blood plasma from patients with acute myeloid leukemia and myelodysplasia
Anna Rogers, Youngson Joe, Amanda Dey, Iman Jilani, Francis Giles, Elihu Estey, Emil Freireich, Michael Keating, Hagop Kantarjian, and Maher Albitar*
Department of Leukemia, University of Texas M. D. Anderson Cancer Center, Houston, Texas, USA
Department of Hematopathology, Quest Diagnostics Inc., Nichols Institute, San Juan Capistrano, CA, USA
* Corresponding author; email: maher.x.albitar{at}questdiagnostics.com.
Using loss of heterozygosity (LOH) and X-chromosome inactivation, we compared peripheral blood (PB) plasma with bone marrow (BM) cells in detecting genomic abnormalities in patients with acute myeloid leukemia (AML) and myelodysplastic syndrome (MDS). We detected LOH in the PB plasma of all 45 patients who had cytogenetically documented chromosomal abnormalities (5q-, -7, +8, -17 or -20). BM cells from the same patients showed LOH in 89% of MDS and 70% of AML patients. Post-therapy samples from 16 of these patients demonstrated complete concordance between LOH and cytogenetics in detecting residual disease in 15 samples. Four of the 16 samples showed LOH in plasma with normal BM morphology. Using X-chromosome inactivation, clonality was detectable in 19 of 26 (73%) BM samples, while all PB plasma samples showed clonality. This data supports the conclusion that PB plasma is enriched by tumor-specific DNA and can replace BM cells for studying genomic abnormalities.

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