CAT #: 13080010
BCL1/JH Translocation Assay - Gel Detection
BCL1/JH t(11;14) Translocation Assays are useful for the study of:
- Identifying BCL1/JH gene rearrangements highly suggestive of mantle cell lymphoma
- Lineage determination of leukemias and lymphomas
- Monitoring and evaluation of disease recurrence
- Detection and assessment of residual disease
- Evaluation of new research and methods in malignancy studies
- Summary of Explanation of the Test
Invivoscribe’s Gene Rearrangement and Translocation Assays represent a new approach to PCR-based clonality testing. These standardized assays were carefully optimized testing positive and negative control samples using multiplex master mixes.
The t(11;14)(q13;q32) is mainly found in mantle cell lymphoma, but has also seen in B-prolymphocytic leukaemia (10-20%), plasma cell leukaemia, splenic lymphoma with villous lymphocytes, chronic lymphocytic leukaemia (2-5%), and in multiple myeloma (20-25%). (Huret JL. t(11;14)(q13;q32). Atlas Genet. Cytogenet. Oncol. Haematol. May 1998). Fluorescence-in-situ-hybridization (FISH) with probes flanking the BCL1 translocation breakpoint cluster region at chromosome 11 band q13, revealed that all mantle cell lymphomas (as defined by the REAL-classification) carry the t(11;14)(q13;q32) (Coignet 1996; Vaandrager 1996). The breakpoints are scattered over a region of 350-kb and ~41% of these breakpoints subcluster in a locus of only 1-kb referred to as the BCL1-major-translocation-cluster, the BCL1-MTC, region (Vaandrager 1996).
This aberrant gene rearrangement juxtaposes genes of the immunoglobulin heavy chain (IGH) gene on chromosome 14q32 with the cyclin D1 gene on chromosome 11q13. The juxtaposition of IgH-sequences results in the transcriptional activation of cyclin D1 (De Boer Oncogene 1995; De Boer Blood 1995). Cyclin D1 is involved in the regulation of the G1 progression and G1/S transition of the cell cycle. 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. In the revised WHO-classification, the presence of the t(11;14)(q13;q32) and/or overexpression of cyclin D1 is added as one of the characteristics for mantle cell lymphoma.
The ~41% of breakpoints clustered in the 1-kb BCL1/MTC locus can be detected by PCR methodology. However, it should be underlined that breakpoints that occur outside the BCL1-MTC locus 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. Results of this test must always be interpreted in the context of morphologic and other relevant data and should not be used alone for a diagnosis of malignancy.
This test is most useful when confronted with a difficult differential finding that includes mantle cell lymphoma. For instance, a neoplastic B-cell proliferation in tissue, blood, or bone marrow that is difficult to categorize as chronic lymphocytic leukemia/small lymphocytic lymphoma, follicular lymphoma, lymphoma of mucosa-associated lymphoid tissue, or mantle cell lymphoma could readily be classified as the latter if a BCL1/JH gene rearrangement were detected.
This has important 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 specimen for disease relapse after treatment, if their original lymphoma was studied and shown to have a BCL1/JH gene rearrangement.
Included in this test kit are two master mixes. The BCL1/JH master mix targets the major translocation cluster (MTC) of the BCL1 locus and the joining region of the Ig heavy chain locus. The other master mix, the Specimen Control Size Ladder, targets multiple genes and generates a series of amplicons of 100, 200, 300, 400, and 600 base pairs to ensure that the quality and quantity of input DNA is adequate to yield a valid result. These robust Invivoscribe assays can be used to test DNA extracted from virtually any source.
- Specimen Requirements
This assay tests genomic DNA
- 5cc of peripheral blood, bone marrow biopsy, or bone marrow aspirate anti-coagulated with heparin or EDTA. Ship at ambient temperature; OR
- Minimum 5mm cube of tissue shipped frozen; or at room temperature or on ice in RPMI 1640; OR
- 2µg of genomic DNA; OR
- Formalin-fixed paraffin embedded tissue or slides.
Warranty and Liability
Invivoscribe, Inc. (Invivoscribe®) is committed to providing the highest quality products. Invivoscribe® warrants that the products meet or exceed the performance standards described in the Instructions For Use, as to products with such an insert. If a product is covered by product specifications and does not perform as specified, our policy is to replace the product or credit the full purchase price. No other warranties of any kind, expressed or implied, are provided by Invivoscribe®. Invivoscribe® liability shall not exceed the purchase price of the product. Invivoscribe shall have no liability for direct, indirect, consequential or incidental damages arising from the use, results of use, or inability to use its products; product efficacy under purchaser controlled conditions in purchaser’s laboratory must be established and continually monitored through purchaser defined and controlled processes including but not limited to testing of positive, negative, and blank controls every time a sample is tested. Ordering, acceptance, and use of product constitutes purchaser acceptance of sole responsibility for assuring product efficacy and purchaser agreement to the limitation of liability set forth in this paragraph.
This product is for Research Use Only; not for use in diagnostic procedures.
This product is covered by one or more of the following: European Patent Number 1549764, European Patent Number 2418287, European Patent Number 2460889, Japanese Patent Number 4708029, United States Patent 8859748, United States Patent 10280462, and related pending and future applications. All of these patents and applications are licensed exclusively to Invivoscribe®. Additional patents licensed to Invivoscribe covering some of these products apply elsewhere. Many of these products require nucleic acid amplification methods such as Polymerase Chain Reaction (PCR). No license under these patents to use amplification processes or enzymes is conveyed expressly or by implication to the purchaser by the purchase of this product.
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