• Test Code:
    5590
  • Department:
  • Test Synonyms:
    T-Cell RearrangementGene Rearrangement for T-cell lymphomaT-Cell ClonalityT-Cell Receptor Gamma ClonalityT-Cell Receptor Beta ClonalityImmunoglobulin light chain clonalityKappa gene rearrangementKappa gene clonalityGene rearrangements for B-cell lymphoma;B cell gene rearrangement for clonality
  • CPT Code(s):
    81261812648134081342
Background:

B-cell lymphomas account for greater than 90% of non-Hodgkin lymphomas and may pose a diagnostic challenge on the basis of histopathology alone.  During normal B-cell maturation, the immunoglobulin heavy chain gene is rearranged such that each mature B-cell and plasma cell has a unique rearranged heavy chain gene profile.  This process is vital to proliferation of B-cells in normal immune function, but can be exploited to aid in the distinction between reactive (benign) versus neoplastic processes of B-cell proliferation.  A reactive, benign B-cell proliferation is characterized by polyclonal expansion of B-cells whereas a malignant process is often characterized by a clonal expansion of a predominant B-cell population.  In conjunction with histopathology study of lymph nodes, bone marrow and other tissue types, the detection of a clonal immunoglobulin heavy chain gene rearrangement by polymerase chain reaction (PCR) is intended as an aid in the diagnosis of malignant B-cell lymphoma.

T-cell lymphomas account for approximately 15% of non-Hodgkin lymphomas and may pose a diagnostic challenge on the basis of histopathology alone and particularly in early stages of disease.  The heterodimeric T-cell surface receptors, either alpha/beta (90% -95% of T cells) or gamma/delta (5% - 10% of T cells) are produced following somatic rearrangement of the T-cell receptor (TCR) genes (alpha, beta, delta, and gamma).  This process is vital to proliferation of T-cells in normal immune function, but can be exploited to aid in the distinction between reactive (benign) versus neoplastic processes of T-cell proliferation.  A reactive, benign T-cell proliferation is characterized by polyclonal expansion of T-cells whereas a malignant process is characterized by clonal expansion of one T-cell population.  In conjunction with morphologic evaluation of lymph nodes, bone marrow and other tissue types the detection of a clonal T-cell gene rearrangement by polymerase chain reaction (PCR) can be used to aid a diagnosis of malignant T-cell lymphoma.

Clinical Utility: 
If the immunophenotype of the suspected lymphoproliferative process cannot be accurately determined by other methods, PCR-based studies for both T and B cell gene rearrangements can be performed simultaneously.  The presence of a clonal immunoglobulin (B cell) or T cell receptor (T cell) gene rearrangement is usually (but not always) indicative of a neoplastic process.

Methodology:

Genomic DNA is extracted from blood, lymph node, bone marrow, or other tissue types and the rearranged immunoglobulin heavy chain, T-cell gamma, and T-cell bets genes are amplified by PCR using a multiplex primer method based on the BIOMED-2 strategy.  Precise fragment sizing of the amplicons is accomplished using capillary gel electrophoresis.  The presence or absence of a monoclonal population is determined based on the overall analysis of the gel electrophoretic pattern.

Specimen Requirements:

  • 5-10 mL of blood or bone marrow — yellow (ACD) or purple (EDTA) tube;
  • If sending DNA, please send 200ng at minimum of 10ng/µL
  • Formalin-fixed paraffin-embedded (FFPE) tissue block or 10 slides (5 micron)
  • Pathology report MUST accompany sample for interpretation of results.

A REQUISITION FORM MUST ACCOMPANY ALL SAMPLES.  Please include detailed clinical information.

Test Performed (Days):

Twice per week

Turn Around Time:

5-10 days

Shipment Sensitivity Requirements:

  • Package and ship specimen to remain cold, but not frozen. 
  • Ship via overnight express, using the FedEx priority overnight label provided. 
  • Contact Client Services for shipping kits and instructions at (855) 535-1522.

References:

  1. Van Dongen JJ, Langerak AW, Bruggemann M, et al. Design and standardization of PCR primers and protocols for detection of clonal immunoglobulin and T-cell receptor gene recombinations in suspect lymphoproliferations: report of the BIOMED-2 Concerted Action BMH4-CT98-3936.  Leukemia 2003; 17(12):2257-2317.
  2. Langerak AW, Molina TJ, Lavender FL, et al. Polymerase chain reaction-based clonality testing in tissue samples with reactive lymphoproliferations: usefulness and pitfalls. Report of the BIOMED-2 Concerted Action BMH4-CT98-3936. Leukemia 2007; 21:222-229.

Additional Info:

Please see test information for B-Cell Gene Rearrangement (test code 4070) and T-Cell Receptor Gene Rearrangement (test code 5592).

The Knight Cancer Institute at Oregon Health & Science University is a pioneer in the field of precision cancer medicine. The institute's director, Brian Druker, M.D., helped prove it was possible to shut down just the cells that enable cancer to grow. This breakthrough has made once-fatal forms of the disease manageable and transformed how cancer is treated. The OHSU Knight Cancer Institute is the only National Cancer Institute-designated Cancer Center between Sacramento and Seattle – an honor earned only by the nation's top cancer centers. It is headquarters for one of the National Cancer Institute's largest research collaboratives, SWOG, in addition to offering the latest treatments and technologies as well as hundreds of research studies and clinical trials.

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