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Detection of trisomy 12 in chronic lymphocytic leukemia by fluorescence in
situ hybridization to interphase cells: a simple and sensitive method
J Anastasi, MM Le Beau, JW Vardiman, AA Fernald, RA Larson and JD Rowley
Department of Pathology, University of Chicago, IL.
Trisomy 12 is the most common cytogenetic abnormality in chronic
lymphocytic leukemia (CLL), and a number of studies have suggested that it
may be an adverse prognostic indicator. We have evaluated the usefulness of
fluorescence in situ hybridization with a chromosome 12- specific probe as
a simple means for detecting trisomy 12 in interphase cells. Forty cases of
B-cell CLL previously studied with conventional cytogenetic techniques were
analyzed with a biotinylated probe to the centromeric region of chromosome
12. Thirty of these retrospective cases could be reevaluated with in situ
hybridization. Our analysis showed three hybridization signals (ie, trisomy
12) in interphase cells from seven of seven cases found previously to have
trisomy 12. Trisomy 12 was also detected in five additional cases: in one
case thought to have a normal karyotype, in two cases that had been
inadequate for routine cytogenetic analysis, and in two cases that had been
found to have an abnormal karyotype without trisomy 12. In a prospective
series of 20 newly accrued CLL cases, all cases were analyzed successfully
by in situ hybridization and six (30%) showed trisomy 12. We were able to
perform the analysis on routinely prepared and previously Wright- stained
peripheral blood smears. We conclude that fluorescence in situ
hybridization is a simple means for the detection of trisomy 12 in CLL. The
technique is more sensitive than conventional cytogenetic analysis and
would be a useful tool in clinical studies.
Volume 79,
Issue 7,
pp. 1796-1801,
04/01/1992
Copyright © 1992 by The American Society of Hematology
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