Detection of Trisomy 12 and Centromeric Alterations in CLL by Interphase- and Metaphase-FISH

We have studied trisomy 12 in chronic lymphocytic leukemia (CLL) by fluorescence in situ hybridization (FISH) with an α-satellite centromeric probe for chromosome 12 on both dividing and non-dividing cells. Trisomy for chromosome 12 was demonstrated in four of these patients (15.3%) using FISH on interphase cells. The percentage of trisomic cells ranged from 10% to 65% of nuclei. The hybridization signals in the trisomic and disomic nuclei were of a broadly similar size and nature. Interestingly, three of the remaining CLL patients, who exhibited disomy for chromosome 12, showed a marked difference in size of the hybridization signals in interphase nuclei. This was also demonstrated in metaphase spreads. In addition, metaphase FISH studies revealed a supernumerary marker chromosome in three out of 26 patients with CLL.