Chromosome abnormalities with prognostic impact in B-cell chronic lymphocytic leukemia

The detailed analysis of the biologic features led to a rapid increase in clinically relevant information in CLL. The recognition of the prognostic role of IgV(H) hypermutation status and related phenotypic changes (CD38, ZAP-70 expression) as well as of chromosome abnormalities defined by cytogenetic analysis enabled a refined classification of the disease. Improvements in karyotyping and the introduction of fluorescence in situ hybridization (FISH) in routine hematological diagnostics raised the detection rate of chromosomal aberrations to approx. 60-80% in CLL. Among them, deletions of 17p and 11q have been associated with unfavorable prognosis. The deletion of the p53 locus (17p13) was described as the strongest independent predictor for aggressive behavior, resistance to chemotherapy and early death. On the contrary, an isolated deletion at 13q14 or a normal karyotype was related with a long survival. Classical and molecular cytogenetic analysis became an important tool for individual risk estimation. Unlike any other approaches, cytogenetic monitoring reflects the genetic heterogeneity and clonal growth dynamics during the course of the disease.