Identification of the Constant Chromosome Regions Involved in Human Hematologic Malignant Disease

TLDR

Consistent chromosome translocations characterize various human leukemias and lymphomas, with recurrent fusions such as t(9;22), t(21;8), t(17;15) in myeloid cancers and t(8;2/14/22) in Burkitt lymphoma and B‑cell ALL, reflecting the involvement of immunoglobulin loci on chromosomes 2, 14, and 22. The study aims to focus on the DNA at the translocation sites of these chromosomes, rather than their reciprocal partners, as the most productive initial research direction. The authors performed DNA analysis at the translocation breakpoints of the implicated chromosomes to identify critical rearrangements. Analysis of a complex translocation affecting chromosomes 8 and 14 revealed that the translocation of chromosome 8 to chromosome 14 is the critical constant rearrangement.

Abstract

Specific consistent chromosome translocations are regularly observed in certain human leukemias and lymphomas. For the myeloid leukemias, the constant recombinants are: the long arm of 9 to chromosome 22 in chronic myeloid leukemia, the long arm of 21 to chromosome 8 in acute myeloblastic leukemia, and the long arm of 17 to chromosome 15 in acute promyelocytic leukemia. Three related translocations are seen in Burkitt lymphoma and B cell acute lymphocytic leukemia; in each one, chromosome 8 is involved with chromosome 2, 14, or 22. Analysis of a complex translocation affecting chromosomes 8 and 14 indicates that the translocation of chromosome 8 to chromosome 14 is the critical constant rearrangement. The analysis of the DNA at the translocation sites of these chromosomes, rather than the reciprocal of each translocation, appears to be the most productive focus for initial study. The various immunoglobulin loci are located on chromosomes 2, 14, and 22, the chromosomes regularly involved in translocations in Burkitt lymphoma and B cell acute lymphocytic leukemia.