Relative increase in leukemia-specific DNA in peripheral blood plasma from patients with acute myeloid leukemia and myelodysplasia.
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 patients with MDS and 70% of patients with AML. Posttherapy samples from 16 of these patients demonstrated complete concordance between LOH and cytogenetics in detecting residual disease in 15 samples. Of the 16 samples, 4 showed LOH in plasma with normal BM morphology. Using X-chromosome inactivation, clonality was detectable in 19 (73%) of 26 BM samples, whereas all PB plasma samples showed clonality. These data support the conclusion that PB plasma is enriched by tumor-specific DNA and can replace BM cells for studying genomic abnormalities.
Department of Leukemia, The University of Texas MD Anderson Cancer Center, Houston, TX, USA.
Anna
A
Rogers
Youngson
Y
Joe
Taghi
T
Manshouri
Amanda
A
Dey
Iman
I
Jilani
Francis
F
Giles
Elihu
E
Estey
Emil
E
Freireich
Michael
M
Keating
Hagop
H
Kantarjian
Maher
M
Albitar
D000328:Adult; D000753:Anemia, Refractory / Q000097:blood / Q000235:genetics; D000754:Anemia, Refractory, with Excess of Blasts / Q000097:blood / Q000235:genetics; D001854:Bone Marrow Cells / Q000737:chemistry; D041321:Chromosomes, Human, X / Q000235:genetics*; D004273:DNA, Neoplasm / Q000097:blood*; D005819:Genetic Markers; D006801:Humans; D015470:Leukemia, Myeloid, Acute / Q000097:blood* / Q000235:genetics*; D019656:Loss of Heterozygosity / Q000235:genetics*; D009190:Myelodysplastic Syndromes / Q000097:blood* / Q000235:genetics*; D012016:Reference Values
D004273:DNA, Neoplasm; D005819:Genetic Markers