Genomic analysis of recurrent unbalanced translocation t(1 ; 7)(q10 ; p10) in myelodysplastic syndrome

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The unbalanced translocation t(l ; 7)(qlO ; plO) is a recurrent chromosomal abnormality found in myelodysplastic syndrome (MDS) and acute myelocytic leukemia with prior histories of chemoradiotherapy. We investigated the breakpoints of this translocation using two-color FISH analysis in order to clarify its roles in pathogenesis of MDS. It was revealed that the translocation occurred between two clusters of centromere alphoid sequences recognized by D1Z7 on chromosome 1 and D7Z1 on chromosome 7. Based on the large variations of relative intensities of FISH signals of these alphoid signals on the derivative chromosome and the corresponding normal chromosome, however, the location the breakpoint within each alphoid cluster may largely differs among patients, indicating that it is loss of 7q and/or gain of 1q materials, rather than the abnormalities of a specific gene near the breakpoint, that might be important for the pathogenesis of MDS/AML harboring this translocation.