Exploring coding and signal joints of novel TCR beta D-D rearrangements for tracking T-cell leukemia clonality.

Rearranged T and B-cell receptor loci serve as critical clonal markers for studying adaptive immune system functioning during normal immune response and abnormal expansion in lymphoid malignancies. Analyses of both complete and partial TCR/BCR gene rearrangements provide valuable insights into the clonal proliferation of malignant T and B lymphocytes. Our earlier work identified novel partial rearrangements between two D (diversity) genes in the human TRB locus in normal T cells from peripheral blood and thymus. In this study, we demonstrate the presence of these novel rearrangements in leukemic T cells, explore their properties for clonality assessment and potential use in minimal residual disease (MRD) monitoring in acute lymphoblastic leukemia, and lay the foundation for further clinical validation.