Large variation in t(11;14)(q13;q32) and t(14;18)(q32;q21) translocation product size is confirmed by sequence analysis of PCR products

• Published in: Clinical and laboratory haematology Vol. 28; no. 4; pp. 248 - 253
• Main Authors: WICKHAM, C. L., HARRIES, L. W., SARSFIELD, P., JOYNER, M. V., ELLARD, S.
• Format: Journal Article
• Language: English
• Published: Oxford, UK Blackwell Publishing Ltd 01-08-2006
• Subjects: 14)(q13; 18)(q32; chromosomal translocation; Chromosomes, Human, Pair 11 - genetics; Chromosomes, Human, Pair 14 - genetics; Chromosomes, Human, Pair 18 - genetics; Genes, bcl-1 - genetics; Genes, bcl-2 - genetics; Humans; Lymphoma, Non-Hodgkin - genetics; Molecular Sequence Data; Polymerase Chain Reaction; q21; q32; Retrospective Studies; sequencing; t(11;14)(q13;q32); t(14;18)(q32;q21); Translocation, Genetic - genetics; Translocation, Genetic - physiology
• ISSN: 0141-9854; 1365-2257
• DOI: 10.1111/j.1365-2257.2006.00790.x

Summary
Polymerase chain reaction is commonly used to detect t(11;14)(q13;q32) and t(14;18)(q32;q21) chromosomal translocations associated with mantle cell lymphoma and follicular lymphoma. We tested a total of 482 samples from patients with suspected non‐Hodgkin's lymphoma and sequenced unusual‐sized t(11;14)(q13;q32) and t(14;18)(q32;q21) products from 33 of these patients. BCL‐1 or BCL‐2 gene rearrangements were confirmed in 23 of 33 patients (70%). Considerable size variation was observed using t(11;14) primers, with MTCA and MTCB t(11;14) products ranging from 234 to 934 bp and 143 to 560 bp respectively. Less variability was observed for t(14;18) Major Breakpoint Region (MBR) products (100–252 bp) but Minor Cluster Region (MCR) products ranged from 217 to 498 bp. We demonstrate the utility of sequence analysis to confirm unusual‐sized translocation products and reduce false‐positive results because of nonspecific amplification.