test directorySearch Results
Click here to search again.
Test Name:
CCND1/IgH t(11;14) Translocation, by FISH
- SBMF No:
36138 - Performance Lab Name:
Flow Cytometry/Molecular Pathology - Test Mnemonic:
T 11-14 - ABN:
Required – Not FDA-Approved - CPT Code:
88271x2; 88275
Genetic testing code modifier 2I may be added to the above CPTs if required by the payer - LOINC Code:
31208-2; 21777-8 - Also Known As:
BCL-1
Cyclin D1
FISH for Mantle Cell Lymphoma (MCL)
Mantle Cell Lymphoma (MCL) FISH
MCL FISH - Spec Type:
Bone marrow or peripheral whole blood - Spec Container:
Lavender top (EDTA) tube - Alt Spec Type:
Unstained prepared smears of bone marrow or peripheral whole blood - Pref Vol:
1.0 mL - Fasting:
No - Spec Collect:
Bone marrow: Collected by physician
Blood: Routine venipuncture - Spec Process:
Do not centrifuge
Do not remove plasma from cells
Do not refrigerate or freeze - Spec Store Transport:
Room temperature - Spec Stability:
48 hours room temperature (20-30°C)
Refrigerated (2-8°C): Unacceptable
Frozen (-20°C): Unacceptable - Spec Reject:
Clotted, refrigerated, or frozen sample - Methodology:
Fluorescence in Situ Hybridization (FISH) - Use:
The presence of this rearrangement using fluorescence in situ hybridization is almost always necessary to make the diagnosis of mantle cell lymphoma. However, the presence of the translocation does not exclude other abnormalities of B-cell lymphocytes. Therefore, clinical correlation is needed to determine the significance of t(11;14)(q13;q32). FISH studies are particularly helpful because of low mitotic index in such lymphomas or leukemias of B-cell lineage lymphocyte. Additional chromosomal abnormalities are seen in association with this translocation and in some cases the translocation may be complex involving a third chromosome. The detection of t(11;14)(q13;q32) is most important for diagnosis and management of B-cell lineage lymphomas and leukemias. It can be used for the detection of residual disease after treatment, but this is not a common use for this test. - Clinical Significance:
Translocation between chromosome 11q13 and 14q32, t(11;14)(q13;q32), is found mainly in mantle cell lymphoma, but also in B-prolymphocytic leukemia, plasma cell leukemia, splenic lymphoma with villous lymphocytes, chronic lymphocytic leukemia, and multiple myeloma. All these diseases involve B-cell lineage lymphocytic abnormality.
11q13 is the site of the BCL1 gene which encodes the cyclin D1 protein. This protein plays a role in cell cycle control and allows for progression through G1 phase of the cell cycle and transition from G1/S phase of the cycle. 14q32 is the site of the IgH gene(coding for heavy chain junction). The result of this translocation is not a fusion protein, but a promoter exchange. The immunoglobulin gene enhancer stimulates the expression of BCL1, and overexpression of BCL1 accelerates passage through the G1 phase of the cell cycle.
In the past, t(11;14)(q13;q32) has been the hallmark of mantle cell lymphoma, a B-cell non-Hodgkin's lymphoma of low to intermediate grade with an incidence of 5 per 1 million population and median survival of 3-4 years. 75% will have thet(11;14)(q13;q32) on routine cytogenetics, but most cases are positive on FISH testing and show overexpression of BCL1. While 10-20% of patients with B-prolymphocytic leukemia, plasma cell leukemia, and splenic lymphoma with villous lymphocytes have the t(11;14)(q13;q32), these diseases are not similar. The B-prolymphocytic leukemia is a chronic lymphoporliferative disorder affecting mature B-cells and has a median survival of 3 years. Plasma cell leukemia is a rare disorder and survival is usually less than one year. Splenic lymphoma with villous lymphocytes involves chronic B-cell Proliferation, and the disorder has a relatively benign course with survival for at least 5 years or more.
About 2-5% of patients with chronic lymphocytic leukemia or multiple myeloma also show this translocation. Chroniclymphocytic leukemia is characterized by chronic B cell proliferation, while multiple myeloma involves a malignant plasma cell (terminally differentialted B-cell) proliferation. Although often a slowly evolving disease, chronic lymphocytic leukemia like multiple myeloma can have a variable progression depending upon the stage of the disease at diagnosis.
- Reference Range:
- Additional Test Info:
This test was developed and its performance was established and confirmed by the SBMF. This test is not cleared or approved by the U.S. FDA. This test is used for clinical purposes and should not be regarded as investigational or for research. South Bend Medical Foundation is authorized under Clinical Laboratory Improvement Amendments (CLIA) to perform high-complexitytesting.
This test is performed pursuant to an agreement with Roche Molecular Systems, Inc.
- Day Run:
As received - Time Run:
As received - Time Reported:
14 days - Test Type:
GENETIC
