Molecular methods for detecting t(11;14) translocations in mantle-cell lymphomas

• Published in: Diagnostic molecular pathology Vol. 7; no. 4; p. 209
• Main Authors: Fan, H, Gulley, M L, Gascoyne, R D, Horsman, D E, Adomat, S A, Cho, C G
• Format: Journal Article
• Language: English
• Published: United States 01.08.1998
• Subjects: Blotting, Southern; Chromosome Mapping; Chromosomes, Human, Pair 11 - genetics; Chromosomes, Human, Pair 14 - genetics; Cyclin D1 - metabolism; DNA Primers - chemistry; DNA, Neoplasm - analysis; Humans; Immunophenotyping; Karyotyping; Lymphoma, Non-Hodgkin - genetics; Lymphoma, Non-Hodgkin - metabolism; Lymphoma, Non-Hodgkin - pathology; Polymerase Chain Reaction; Translocation, Genetic - genetics
• ISSN: 1052-9551
• DOI: 10.1097/00019606-199808000-00005

The t(11;14)(q13;q32) and its molecular counterpart, bcl1/JH, are characteristic of mantle-cell lymphomas (MCL). Molecular detection of the translocation is useful in diagnosis and classification, and also shows promise in detecting minimal residual disease. The purpose of this study was to determine the frequency of detecting bcl1/JH by polymerase chain reaction (PCR) compared with Southern blot analysis in cases proven by cytogenetic analysis to harbor t(11;14). Southern blot analysis using two probes targeting the major translocation cluster (MTC) and a third probe targeting the p94 region was performed, along with PCR using two different bcl1 MTC primers, on 18 cases of MCL known to have t(11;14). Southern blot analysis revealed bcl1 rearrangement in 13 of 18 cases (72%), 12 with MTC breakpoints and 1 with a p94 breakpoint. The 2.1-kb MTC probe "b" was superior to the smaller 700-bp probe "a" in detecting these rearrangements. The MTC translocation was identified by PCR in 10 of 12 cases, and both primer sets that were tested performed equally well. This study illustrates the frequency with which molecular methods detect known t(11;14) translocations in MCLs. These results may help clinical laboratory scientists optimize their procedure for detecting bcl1 translocations by molecular methods at initial diagnosis and for purposes of detecting minimal residual disease.