title: Quantitative PCR detection of t(14;18) bcl-2/JH fusion sequences in follicular lymphoma patients: comparison of peripheral blood and bone marrow aspirate samples.
abstract: In patients with follicular lymphoma (FL), it is unresolved whether peripheral blood (PB) can replace bone marrow (BM) aspirate samples for detection of bcl-2/JH fusion sequences that result from the t(14;18)(q32;q21). We compare here the results of quantitative polymerase chain reaction (q-PCR) analysis for bcl-2/JH involving the major breakpoint cluster region (mbr) on paired PB and BM aspirate samples from 60 consecutive FL patients. There was a significant correlation between the level of bcl-2/JH fusion sequence obtained from PB and BM aspirate samples (r = 0.886), with 82% of samples showing less than one log of difference. Patients who had histological evidence of FL involving concurrent BM biopsy specimens had moderate to high levels of bcl-2/JH in both PB and BM aspirate samples, allowing unequivocal determination of translocation status (median bcl-2/JH to cyclophilin level was 8.014%). In contrast, patients with no detectable FL in their BM biopsy specimens often showed low levels of bcl-2/JH in both PB and BM aspirate samples (bcl-2/JH to cyclophilin median level = 0.006%), in a range similar to background levels that could be detected in patients without FL (n = 15, median bcl-2 mbr/JH to cyclophilin level = 0.002%). We conclude that PB can be used in place of BM aspirate samples to test for the presence of bcl-2 mbr/JH fusion sequence in FL patients and that either PB or BM aspirate testing yields a rough approximation of the degree of BM involvement by FL. However, in patients with minimal levels of bcl-2/JH in PB or BM aspirate samples, confirmation of this result by testing the primary tumor is recommended to confirm the presence of an identical bcl-2/JH fusion sequence and exclude false-positive results.
authors.affiliation: Department of Hematopathology, The University of Texas M.D. Anderson Cancer Center, Houston, TX 77054, USA.
authors.forename: Alex
authors.initials: A
authors.lastname: Bowman
authors.forename: Dan
authors.initials: D
authors.lastname: Jones
authors.forename: L Jeffrey
authors.initials: LJ
authors.lastname: Medeiros
authors.forename: Rajyalakshmi
authors.initials: R
authors.lastname: Luthra
mesh_terms: D001706:Biopsy; D001853:Bone Marrow; D001854:Bone Marrow Cells / Q000378:metabolism*; D002883:Chromosomes, Human, Pair 14; D002887:Chromosomes, Human, Pair 18; D021983:Cyclophilins / Q000378:metabolism; D004247:DNA / Q000378:metabolism; D019254:Genes, bcl-2; D005821:Genetic Techniques; D006801:Humans; D008224:Lymphoma, Follicular / Q000235:genetics*; D005810:Multigene Family; D016133:Polymerase Chain Reaction / Q000379:methods*; D019253:Proto-Oncogene Proteins c-bcl-2 / Q000235:genetics*; D015203:Reproducibility of Results; D014178:Translocation, Genetic
chemical_list: D019253:Proto-Oncogene Proteins c-bcl-2; D004247:DNA; D021983:Cyclophilins