Plasma-based detection of clonality in lymphoid malignancies

• Published in: European journal of haematology 2009-06, Vol.82 (6), p.450-453
• Main Authors: Yeh, Chen-Hsiung, Tseng, Richard, Albitar, Maher
• Format: Article
• Language: English
• Subjects: B-Lymphocytes; Case-Control Studies; clonality; Clone Cells - pathology; DNA, Neoplasm - analysis; DNA, Neoplasm - blood; DNA, Neoplasm - genetics; Gene Rearrangement; Humans; Immunoglobulin Heavy Chains - genetics; lymphoid malignancy; Lymphoproliferative Disorders - diagnosis; Lymphoproliferative Disorders - genetics; Lymphoproliferative Disorders - pathology; Plasma; Receptors, Antigen, T-Cell, gamma-delta - genetics; T-Lymphocytes; Translocation, Genetic
• ISSN: 0902-4441; 1600-0609
• DOI: 10.1111/j.1600-0609.2009.01231.x

Objectives:  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‐γ) 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‐γ (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.