Translocation (X;20)(q13;q13.3): Report of Three Additional Cases.

We report a recurrent translocation (X;20)(q13;q13.3) in three patients. The translocation was the sole chromosomal abnormality in all three patients and the number of cells with the abnormality varied from three to seventeen out of twenty metaphases analyzed for each patient. The patients were all female with ages ranging from 66 to 83. The presenting symptoms were variable but all included a history of anemia. Bone marrow aspiration showed acute monocytic leukemia in one patient and normocellular bone marrow with no detectable morphologic or immunophenotypic evidence of neoplasm in the other two. Only eight cases with the translocation have previously been reported. Seven of these cases had either myelodysplastic syndrome or acute myeloid leukemia and one patient had pancytopenia of unknown etiology. Repeated bone marrow evaluations on this patient showed no dyspoietic changes. The t(X;20) has clearly been established as a nonrandom abnormality, however, the clinical significance of the translocation is not clear. Close follow up of these patients is therefore essential. Characterization at the molecular level will also help to determine the genes involved and the mechanism of their action.