Abstract

We report here a patient with Ph1-positive myelodysplasia with a complex karyotype. The patient presented with severe refractory anemia and ineffective erythropoiesis. In addition to t(9;22), chromosomes no. 1, 11, 12 and X also showed structural aberrations. Serial chromosome analyses revealed an increase of the Ph1-positive cell line along with the evolution of the disease (50% to 100%). Southern blot analysis showed a breakpoint cluster region (bcr) rearrangement as described for chronic myeloid leukemia (CML). The disease evolved into an acute leukemia after 4 years without any clinical evidences of CML.

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