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Abnormalities of the retinoblastoma gene in the pathogenesis of acute
leukemia
HG Ahuja, PS Jat, A Foti, M Bar-Eli and MJ Cline
Department of Medicine, UCLA.
The retinoblastoma-susceptibility (Rb) gene is an antioncogene that is
frequently altered in retinoblastomas, sarcomas, and some epithelial
tumors. We examined the structure of the Rb gene by Southern blotting in
215 cases of leukemias and lymphomas of diverse phenotype and in 15
leukemic cell lines. In selected cases Rb protein expression was examined
with specific monoclonal antibodies. Structural abnormalities of the Rb
gene with absent protein expression were frequent in all types of human
acute leukemia, but were particularly common (27% incidence) in M4 and M5
myeloid leukemia with monocytic differentiation and in Philadelphia
chromosome (Ph1)-positive leukemia of lymphoid phenotype (11% to 29%
incidence). Changes in Rb were observed early in the transition to acute
leukemia in cases of myelodysplastic syndrome and in the accelerated phase
of chronic myelocytic leukemia in transition to blast crisis. In one case,
molecular changes in Rb could be correlated with leukemia remission and
relapse. We conclude that the Rb antioncogene is commonly involved in the
evolution of human acute leukemias, particularly in those of a monocytic
phenotype and in lymphoid leukemia in which there is an antecedent
alteration of the Ph1 chromosome.
Volume 78,
Issue 12,
pp. 3259-3268,
12/15/1991
Copyright © 1991 by The American Society of Hematology

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