Plasma-based detection of clonality in lymphoid malignancies.
OBJECTIVE
Plasma has been found to be enriched with tumor-specific DNA, RNA, and protein in patients with hematologic disease. We assessed the utility of plasma as a DNA source for detection of genetic abnormalities in patients with suspected B- or T-cell lymphoproliferative disorders.


METHODS
DNA was extracted from paired peripheral blood (PB) cells and plasma for polymerase chain reaction (PCR)-based detection of immunoglobulin heavy chain (IgH) and T-cell receptor gamma chain (TCR-gamma) rearrangements, and B-cell leukemia/lymphoma (BCL)-1/IgH and BCL-2/IgH translocations.


RESULTS
Concordance between plasma and PB cell analysis was 100% for IgH (n = 57), TCR-gamma (n = 57), and BCL-1/IgH (n = 37) rearrangements, and 94% (60/64) for BCL-2/IgH; four of 11 plasma samples positive for BCL-2/IgH tested negative in paired cells. No plasma or PB cell samples from 195 healthy donors showed genetic abnormalities.


CONCLUSIONS
These findings indicate that plasma is a reliable sample type for detection of abnormalities associated with B- and T-cell lymphoproliferative disorders, providing sensitivity equal to or greater than that of PB cells.
Yeh
Chen-Hsiung
CH
Department of Hematopathology R&D, Quest Diagnostics Nichols Institute, San Juan Capistrano, CA, USA.
Tseng
Richard
R
Albitar
Maher
M
D001402:B-Lymphocytes; D016022:Case-Control Studies; D002999:Clone Cells / Q000473:pathology; D004273:DNA, Neoplasm / Q000032:analysis* / Q000097:blood / Q000235:genetics; D015321:Gene Rearrangement; D006801:Humans; D007143:Immunoglobulin Heavy Chains / Q000235:genetics; D008232:Lymphoproliferative Disorders / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology*; D010949:Plasma; D016692:Receptors, Antigen, T-Cell, gamma-delta / Q000235:genetics; D013601:T-Lymphocytes; D014178:Translocation, Genetic
D004273:DNA, Neoplasm; D007143:Immunoglobulin Heavy Chains; D016692:Receptors, Antigen, T-Cell, gamma-delta