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High frequency of monoallelic retinoblastoma gene deletion in B-cell
chronic lymphoid leukemia shown by interphase cytogenetics
S Stilgenbauer, H Dohner, M Bulgay-Morschel, S Weitz, M Bentz and P Lichter
Forschungsschwerpunkt Angewandte Tumorvirologie, Deutsches
Krebsforschungszentrum, Heidelberg, Germany.
Inactivation of the retinoblastoma tumor-suppressor gene (RB-1) has been
associated with tumorigenicity in various human malignancies. In chronic
lymphoid leukemias of B-cell origin (B-CLL) an involvement of RB-1 has been
suggested based on cytogenetic data. We examined RB-1 and its chromosomal
locus 13q14 in 35 cases of B-CLL by dual-color in situ hybridization to
interphase nuclei and by G-banding analysis of metaphase chromosomes. In
one patient (pt) a monosomy 13, and in three other pts deletions involving
or encompassing band 13q14 were detected by conventional cytogenetic
analysis. In contrast, in situ hybridization to interphase nuclei showed a
monoallelic RB-1 deletion in 11 cases (31%). One pt showed a translocation
with the breakpoint in 13q1?4 on G-banding, but on in situ hybridization
analysis the RB-1 signals were not affected. Our data show that RB-1
deletions can be diagnosed accurately by in situ hybridization on the
one-cell level. The frequency of RB-1 deletions detected in this study is
significantly higher than previously assumed in B-CLL, and seems to be in
the same range as in retinoblastoma.
Volume 81,
Issue 8,
pp. 2118-2124,
04/15/1993
Copyright © 1993 by The American Society of Hematology
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