A test that asks whether a group of lymphocytes is one family descended from a single cell, or a crowd of unrelated ones. Cancer is one family. It is used when the appearance under the microscope is not enough to decide.
Every B cell and T cell rearranges its antigen receptor genes into a sequence unique to itself, so the length and sequence of that rearrangement is a fingerprint for the cell and all its descendants. A reactive lymph node contains thousands of different rearrangements and gives a smooth, polyclonal distribution; a lymphoma contains one, repeated, and gives a single peak.
The European BIOMED-2 collaboration standardised the assay into 107 primers in 18 multiplex tubes covering the immunoglobulin heavy chain in two configurations, the kappa and lambda light chains, the T-cell receptor beta, gamma and delta loci, and the BCL1-IGH and BCL2-IGH translocations, read by heteroduplex analysis or fragment sizing. The EuroClonality-NGS successor sequences the amplicons instead of sizing them, which both improves resolution and produces a patient-specific sequence that can be followed afterwards as a residual disease marker.
The assay is most often ordered where morphology and immunohistochemistry disagree or where the sample is small: a skin biopsy in suspected cutaneous T-cell lymphoma, a gastric biopsy in suspected MALT lymphoma, a marrow with an ambiguous infiltrate, or a lymph node with an atypical but not clearly malignant population.
Multiplex PCR, or targeted sequencing, across the V, D and J segments of the immunoglobulin and T-cell receptor loci. A clonal population gives amplicons of one length and sequence; a polyclonal population gives a Gaussian spread of lengths. The output is a pattern, not a diagnosis.
Query for this technology: (TITLE:"Immunoglobulin and T-cell receptor clonality testing" OR ABSTRACT:"Immunoglobulin and T-cell receptor clonality testing" OR TITLE:"IGH clonality" OR ABSTRACT:"IGH clonality" OR TITLE:"TCR clonality" OR ABSTRACT:"TCR clonality" OR TITLE:"BIOMED-2" OR ABSTRACT:"BIOMED-2") AND (cancer OR tumor OR tumour OR oncology OR carcinoma OR lymphoma OR leukemia OR leukaemia OR myeloma OR sarcoma OR melanoma OR glioma). Results are unfiltered search hits about Immunoglobulin and T-cell receptor clonality testing, not a curated reading list.
Shares Cutaneous T-cell lymphoma (mycosis fungoides and Sezary syndrome), Primary CNS lymphoma, Waldenström macroglobulinaemia, Marginal zone lymphoma and the tag lymphoma.
Shares Richter transformation of chronic lymphocytic leukaemia, Marginal zone lymphoma, Follicular lymphoma, Diffuse large B-cell lymphoma and the tag lymphoma.
Shares Cutaneous T-cell lymphoma (mycosis fungoides and Sezary syndrome), Waldenström macroglobulinaemia, Marginal zone lymphoma, Peripheral T-cell lymphomas (including cutaneous T-cell lymphoma) and the tag lymphoma.
Shares Cutaneous T-cell lymphoma (mycosis fungoides and Sezary syndrome), Primary CNS lymphoma, Waldenström macroglobulinaemia, Marginal zone lymphoma.
Shares The germinal centre: why lymphoma starts where antibodies are made, Next-generation sequencing (NGS), Follicular lymphoma, Diffuse large B-cell lymphoma and the tag lymphoma.
Shares Nodal T-follicular helper cell lymphoma, angioimmunoblastic type (angioimmunoblastic T-cell lymphoma), Sezary syndrome, Extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue (MALT lymphoma), Cutaneous T-cell lymphoma (mycosis fungoides and Sezary syndrome).
Shares Cutaneous T-cell lymphoma (mycosis fungoides and Sezary syndrome), Primary CNS lymphoma, Waldenström macroglobulinaemia, Marginal zone lymphoma.
Shares The germinal centre: why lymphoma starts where antibodies are made, Richter transformation of chronic lymphocytic leukaemia, Follicular lymphoma, Diffuse large B-cell lymphoma and the tag lymphoma.