Applications of antigen receptor gene rearrangements to the diagnosis and characterization of lymphoid neoplasms.

During early stages of lymphocyte development, genes for antigen receptors (immunoglobulin and T-cell receptor proteins) undergo rearrangements of their DNA sequences. The resulting configurations of rearranged DNA are highly variable from cell to cell and serve as genetic markers for individual lymphocytes. These markers can be utilized to detect clonal lymphocytic proliferations, as seen in lymphoid malignancies, and to identify the lineage of lymphoid neoplasms. Chromosomal rearrangements involving recombination between the DNA of antigen receptor genes and other sites in the genome also occur in lymphoid neoplasms, and molecular analysis of such rearrangements is potentially useful in the diagnosis of lymphomas and leukemias.