Cytogenetic studies were performed in 546 patients with acute leukemia between 1968 and 1975. Two hundred thirty-four patients were aneuploid (42.9%), and 312 patients were diploid (57.1%). Among these, 32 patients were found to exhibit similar chromosomal alterations that appeared to involve specifically chromosomes 8 and 21. Banding studies in at least 15 of these patients confirmed the presence of a translocation between these two chromosomes. The cytogenetic findings were correlated with the hematologic and clinical data. It was found that each of these individuals had a typical picture of acute granulocytic leukemia with Auer rod-positive and peroxidase-positive cells. Ultrastructurally, the patients in this group also consistently demonstrated the presence of a nuclear bleb that has been positively associated with aneuploidy in acute leukemia. Clinically, they seemed to respond better to therapy than other adult patients with acute granulocytic leukemia. It is proposed that the 8/21 translocation acute leukemia represents a definite subgroup within the general category of acute granulocytic leukemia, with an incidence of approximately 7.3%.

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