Mantle cell lymphoma. Rapid polymerase chain reaction-based genotyping of a morphologically heterogeneous entity

Mantle cell lymphoma is heterogeneous at the morphologic level. Since this B-cell lymphoma may be confused with other entities, ancillary molecular testing may be necessary for definitive diagnosis. A polymerase chain reaction-based method, which is less complicated and more rapid than that generally available for the detection of immunoglobulin heavy chain (IgH) and bcl-1 gene rearrangements, would be helpful in this process.

Thirty-one mantle cell lymphoma samples (frozen or ethanol-preserved) from 29 patients were studied with two separate polymerase chain reaction assays using an air thermocycler and a low-volume, capillary-tube format for rapid DNA amplification. The reverse primer, JH, was common to both assays. The forward primers were directed to the IgH framework III variable region (VH-FRIII) and the bcl-1 gene major translocation cluster. Agarose gels were used to evaluate amplicon. Additional product verification was also performed.

Immunoglobulin heavy chain and major translocation cluster bcl-1 gene rearrangements were detected in all 29 (100%) and in 12 (41%) of 29 mantle cell lymphoma samples, respectively. Each VH-FRIII/JH assay required 26 minutes to complete, whereas the major translocation cluster bcl-1/JH reaction required only 21 minutes. The seemingly low yield of bcl-1 gene rearrangements is not unexpected since this assay only detects major translocation cluster breakpoints.

Presented is an extremely rapid, nonisotopic polymerase chain reaction-based method that detects IgH and major translocation cluster bcl-1 gene rearrangements in mantle cell lymphoma. Each polymerase chain reaction amplification was complete in 26 minutes or less, required only a 10-microL reaction volume, and exhibited adequate and specific product yield. This approach permits superior turnaround time and is thus advantageous in the clinical setting.