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We tested a set of commercially available probes to determine the feasibility and accuracy of FISH in the detection of abnormalities in 13 patients with Chronic Lymphocytic Leukemia (CLL) with a particular aggressive clinical disease. We utilized three different probes for the 13q12-14 region, one for the centromeric region of chromosome 12, one for the P53 gene at 17p13.1 and one for 3'-5' IGH at 14q32, covering the entire region of IGH, thus potentially allowing to detect more rearrangements. Conventional cytogenetic study showed a normal karyotype in 8/13 patients. FISH was able to detect chromosomal abnormalities in 10/13 pts (85%): +12 in 4 pts (38%); del 13q in 4 (38%); del 17p in 3 (35%); del of 5'-IGH in 1 (15%). In conclusion FISH confirmed its ability to improve the detection of cytogenetic abnormalities especially in patients with an aggressive disease.

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As a result of the low proliferative index, only 50% of chronic lymphocytic leukemia cases are adequate for cytogenetic analysis. Of these, about half have clonal abnormalities. The application of fluorescence in situ hybridization (FISH) to CLL has substantially enhanced our ability to detect chromosomal aberrations; the incidence of a number of recurring abnormalities has been established, providing new insights into the pathogenesis of this disease with a direct impact on the prognosis.

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