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CAT #: 93080010

IdentiClone® BCL1/JH Translocation Assay - Gel Detection

Intended Use

The IdentiClone® BCL1/JH Translocation Assay is an in vitro diagnostic product intended for PCR-based detection of BCL1/JH t(11;14)(q13;q32) gene translocations in patients with suspect lymphoproliferations.

Specifically, the BCL1/JH Translocation Assay can be used to:

  • Identify BCL1/JH gene translocations highly suggestive of mantle cell lymphoma
  • Distinguish mantle cell lymphoma from other neoplastic or benign B cell proliferations
  • Monitor and evaluate disease recurrence

Product Details

  • Summary and Explanation of the Test

    SUMMARY AND EXPLANATION OF THE TEST

    The BCL1/JH t(11;14)(q13;q32) gene translocation is mainly found in mantle cell lymphoma (MCL) (50-70%), but is also seen in B-prolymphocytic leukemia (B-PLL) (10-20%), plasma cell leukemia (PCL), splenic lymphoma with villous lymphocytes (SLVL), chronic lymphocytic leukemia (CLL) (2-5%), and in multiple myeloma (MM) (20-25%).1   Fluorescence-in-situ-hybridization (FISH) with probes flanking the BCL1/JH translocation breakpoint cluster region (Bcr) on chromosome 11 band q13 revealed that all mantle cell lymphomas (as defined by the REAL-classification) carry the t(11;14)(q13;q32).2,3   BCL1/JH breakpoints are scattered over a region of 350 kilobases (kb), and approximately 41% of these breakpoints cluster in a locus of only 1 kb referred to as the BCL1 Major Translocation Cluster (MTC) region.3  The BCL1/JH breakpoints clustered in the 1 kb BCL1MTC locus can be detected by polymerase chain reaction (PCR) methodology.

    This aberrant gene translocation juxtaposes genes of the immunoglobulin heavy chain (IGH) joining (JH) region on chromosome 14q32 with the cyclin D1 gene on chromosome 11q13.  The juxtaposition of IGH JH sequences results in the transcriptional activation of cyclin D1, which is involved in the regulation of the G1 progression and G1/S transition of the cell cycle.4,5  Translocation does not lead to expression of a fusion protein; in fact, oncogenesis is due to a promoter/enhancer exchange, wherein the immunoglobulin gene enhancer stimulates the expression of cyclin D1.  Overexpression of cyclin D1, in turn, accelerates passage of transformed cells through the G1 phase.  The revised WHO classification includes the presence of the t(11;14)(q13;q32) and/or overexpression of cyclin D1 as one of the characteristics for mantle cell lymphoma.

    This test is most useful when confronted with a difficult differential diagnosis that includes MCL.  For instance, a neoplastic B-cell proliferation in tissue, blood, or bone marrow that is difficult to categorize as CLL, follicular lymphoma (FL), lymphoma of mucosa-associated lymphoid tissue, or MCL can readily be classified as the latter if a BCL1/JH gene translocation is detected.  This has important clinical implications, since mantle cell lymphomas are typically more aggressive and have an overall worse prognosis than other low-grade B-cell lymphomas.  Since this molecular abnormality is also a tumor-specific  marker, it can be used for staging purposes and to monitor patients for disease relapse after treatment, if their original lymphoma was studied and shown to have a BCL1/JH gene rearrangement.

  • Principles of the Procedure

    Polymerase Chain Reaction (PCR)

    PCR assays are routinely used for the identification of chromosome translocations.  This test targets the MTC region of the BCL1/JH translocation and amplifies genomic DNA between primers that target the BCL1 gene and the conserved joining (JH) regions of the IGH gene (BCL1/JH Tube).  Breakpoints that occur outside the MTC will not be identified by this particular test.  Therefore, a negative result does not completely exclude the presence of a BCL1/JH gene rearrangement in the sample.  DNA from a normal lymphocyte population will also produce a negative result.

    Gel Detection

    Gel electrophoresis, such as agarose gel electrophoresis or non-denaturing polyacrylamide gel electrophoresisis (PAGE), is commonly used to resolve the different amplicon products based on their size, charge, and conformation.  Since DNA is negatively charged, when an electrical potential (voltage) is applied across the gel containing PCR products, the electrical field causes the amplicons to migrate through the gel.  Smaller DNA fragments are able to easily migrate through the gel matrix, whereas larger DNA fragments migrate more slowly.  This causes a separation of the amplicon products based on size.  Ethidium bromide or other DNA intercalating dyes can then be used to stain and detect these products in the gel.

  • Specimen Requirements

    This assay tests genomic DNA (gDNA) from the following sources:

    • 5 cc of peripheral blood, bone marrow biopsy, or bone marrow aspirate anti-coagulated with heparin or EDTA (stored at 2°C to 8°C and shipped at ambient temperature)
    • Minimum 5 mm cube of tissue (stored and shipped frozen; or stored and shipped in RPMI 1640 at ambient temperature or on ice)
    • 2 µg of gDNA (stored at 2°C to 8°C and shipped at ambient temperature)
    • Formalin-fixed paraffin embedded tissue or slides (stored and shipped at ambient temperature)

References

1. Huret, JL. t(11;14)(q13;q32). Atlas Genet. Cytogenet. Oncol. Haematol. May 1998.

2. Coignet, LJA et al.  Blood. 1996, 87:1512-1519.

3. Vaandrager, J et al. Blood. 1996, 88:1177-1182.

4. De Boer, CJ et al.  Oncogene. 1995, 10:1833-1840.

5. De Boer, CJ et al.  Blood. 1995, 86:2715-2723.

Disclaimer

This assay is based on the EuroClonality/BIOMED-2 Concerted Action BMH4-CT98-3936.

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