A Case of Acute Megakaryocytic Leukemia Presenting as Peripheral Acute Leukemia with Complex Karyotypic Abnormalities

Peripheral acute leukemia (PAL) is extremely rare. We report on the first case of acute megakaryocytic leukemia presenting with PAL and complex chromosomal abnormalities. At diagnosis, the patient had 10.5–21% marrow blasts and 55–60% peripheral blasts which expressed CD42b and CD61. Two related clones with the karyotype of 48,X,−X,+3,+9,del(9)(q12q31)×2,+17,i(17)(q10)/49,idem,+18 were revealed by conventional cytogenetics, but no AML-1/ETO fusion transcript was detected by RT-PCR assay. The significance of this case is discussed concisely.