Abstract
Southern blot analysis of T-cell receptor TCR genes rearrangements is usefull for diagnostic studies on the clonality of lymphoproliferative diseases and for a better assigment of the cell lineage of leukemic cells.
We analyzed 26 cases of precursor B-ALL in aim to detect the presence of TCR-δ gene rearrangements. In fact lineage crossover of gene rearrangements have been osserved quite frequently in neoplastic cells. We found 6/26 patients in germline configuration, 5/26 deleted and 15/26 with at least one allele reananged. Taking into account previous studies (Breit et al. 1993) we were able to define exactly in 8/26 cases the gene segments involved in the rearrangement; DNA extracted from bone marrow samples was digested with Eco RI, Hind III and Bgl II restriction enzymes. The hybridization with TCRJδ 1 probe showed that the majority of the rearrangements were Vδ2Dδ3 and Dδ2Dδ3.
It is possible that the crossover rearrangements reflect the earliest steps of recombinational event in rearranging antigen-receptor gene loci. Besides the Vδ2Dδ3 rearrangement, the most frequently observed in precursor B-ALL, may be the earliest recombinational event in TCR-δ gene during normal T-cell ontogeny. Amplification by PCR technique, using specific primers revealed the presence of a specific band of leukemic clone and in one case we found the sequence of junctional region between Vδ2 and Dδ3 gene segments. In this particular case, the insertion of 6 nucleotides creates a unique clonal marker of leukemic cells that can be used for the detection of minimal residual disease (MRD).
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Valetto, A., Martino, D., Scuderi, F. et al. 233 PREFERENTIAL USAGE OF INCOMPLETE REARRANGEMENTS IN PRECURSOR B-ACUTE LYMPHOBLASTIC LEUKEMIA (B-ALL). Pediatr Res 36, 41 (1994). https://doi.org/10.1203/00006450-199407000-00233
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DOI: https://doi.org/10.1203/00006450-199407000-00233