Chromosome Findings in Preleukemia

Abstract

Cytogenic studies were performed on 52 patients with potentially preleukemic states such as refractory anemia, sideroblastic anemia, pure red cell aplasia, aplastic anemia, and paroxysmal nocturnal hemoglobinuria to evaluate the diagnostic and prognostic significance of chromosome findings. In 36 of the 52 patients, no chromosome aberrations were detected, whereas 16 patients showed aneuploidy. Seven patients with diploidy and nine patients with aneuploidy died from acute leukemia. Six patients with aneuploidy died 1–25 months after the detection of the aneuploidy, but without evidence of overt acute leukemia. One patient with aneuploidy is still alive without signs of overt acute leukemia.

The following conclusions can be drawn: (a) The demonstration of clonal chromosome abnormalities in bone marrow cells of patients with potentially preleukemic states is associated with a higher risk of acute leukemia; (b) Patients with clonal chromosome aberrations have an approximately threefold higher risk of developing acute leukemia than those without detectable chromosome aberrations; (c) Patients with atypical marker chromosomes apparently have a high risk of developing acute leukemia; (d) In cases with hypodiploidy, it has to be stressed that the loss of a gonosome is a common event in an elderly man and may not be interpreted as evidence for leukemia; (e) A diploid karyotype does not necessarily exclude the terminal appearance of acute leukemia, since in about 50% of adult acute leukemias chromosome aberrations cannot be detected.