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Trisomy 12 in chronic lymphocytic leukemia detected by fluorescence in situ
hybridization: analysis by stage, immunophenotype, and morphology
TH Que, JG Marco, J Ellis, E Matutes, VB Babapulle, S Boyle and D Catovsky
Academic Department of Haematology & Cytogenetics, Royal Marsden
Hospital, London, UK.
Fluorescence in situ hybridization (FISH) with a chromosome 12 specific
alpha-centromeric probe was performed on interphase cells from 183 patients
with B-cell chronic lymphocytic leukemia (CLL). Twenty one cases with
trisomy 12 (11.5%) were detected. The number of trisomic cells ranged from
5.5% to 76% (mean 38.5%). No correlation was found between the presence of
trisomy 12 and white blood cell count, hemoglobin level, platelet count, a
specific immunophenotype, clinical stage, sex, splenomegaly, or
lymphadenopathy. Morphologic review of all cases with trisomy 12 showed
seven (33%) with more than 10% prolymphocytes and three (14%) with CLL of
mixed cell type. While trisomy 12 is the most common chromosomal
abnormality in CLL, it is more frequent in morphologically atypical cases,
some of which may be undergoing transformation. There was a statistically
significant difference in the incidence of atypical cases between those
with (47%) and without (7.6%) trisomy 12 (P < .001). It remains to be
determined whether this abnormality is associated with a worse prognosis;
this is currently being investigated in the context of a national
therapeutic trial. The technique used is more sensitive than conventional
cytogenetic analysis, which in this series failed to detect trisomy 12 in
six cases. FISH allows the systematic study on a large number of patients
without the need of metaphase preparations.
Volume 82,
Issue 2,
pp. 571-575,
07/15/1993
Copyright © 1993 by The American Society of Hematology
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