Molecular analysis of a variant 18;22 translocation in a case of lymphocytic lymphoma

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Abstract
We previously reported a 5′ rearrangement of the BCL2 locus in a t(18;22) variant translocation found in a lymphocytic lymphoma. Primary structure analysis of both rearranged chromosomes confirmed the localization of the breakpoint in the so‐called vcr region (for variant cluster region) that encompasses Z‐DNA stretches 5′ of the BCL2 locus, and in between Jλ1 and Cλ1 segments on the IGL locus. A 1,027 nucleotide segment from chromosome 22 was repeated on both derivative chromosomes 18q + and 22q ‐. This segment contained an octanucleotide that was also present in the normal chromosome 18 close to the breakpoint. As a consequence of the translocation, a normal‐sized BCL2 transcript was overexpressed in tumor cells.