Numeric chromosomal abnormalities in small lymphocytic and transformed large cell lymphomas detected by fluorescence in situ hybridization of fine-needle aspiration biopsies

BACKGROUND. Chromosomal abnormalities in some lymphomas are associated with a poor prognosis. Trisomy 12 and deletions of chromosome 13 have been desc ribed in small lymphocytic lymphoma (SLL). To determine whether chromosomal aberrations could be detected by fluorescence in situ hybridization (FISH) on fine-needle aspiration biopsies (FNABs), we analyzed and compared speci mens from seven patients with SLL and nine patients with a history of SLL t hat had transformed to large cell lynnphoma. METHODS. DNA probes specific to chromosome 12 and the chromosome 13/RB-1 ge ne locus were used for in situ hybridization on interphase cell nuclei. The cytologic features, ploidy, proliferation index, and conventional cytogene tic analysis findings were correlated with the FISH results. RESULTS. Trisomy 12 was detected in 2 (29%) of the 7 cases of SLL and 2 (22 %) of the 9 cases of transformed large cell lymphoma. Deletion of chromosom e 13/RB-1 was present in 3 (43%) of 7 cases of SLL and 3 (33%) of 9 cases o f transformed large cell lymphoma. CONCLUSIONS. This study showed that interphase cytogenetic analysis by FISH is feasible on FNAB specimens. Trisomy 12 and deletions of chromosome 13/R B-1 were present in some cases of SLL and transformed large cell lymphoma, and the presence of these chromosomal abnormalities did not correlate with transformation to a higher grade of lymphoma. (C) 2000 American Cancer Soci ety.