Clinical Impact Of Genomic Aberrations In Bcll

The multicenter International Working Party on Chromosomes in CLL (IWCCLL) studies examined the correlation between clinical data and genomic aberrations based on chromosome banding (19,21). A longer estimated survival time (median 15 yr) was found in the group of patients with normal karyotype compared with the group with clonal aberrations (median 7.7 yr). Moreover, a relation was found between the complexity of the karyotype and unfavorable prognosis. In the subgroup analyses of patients with specific aberrations, a correlation was found between trisomy 12 and shorter survival time; in contrast, aberrations in chromosome 13 were associated with more favorable prognoses. In multivariate analysis, however, neither the presence nor the number of chromosomal aberrations showed independent prognostic relevance.

Precise detection of genomic aberrations using interphase FISH provided a more reliable basis for correlations between genomic aberrations and clinical parameters in B-CLL. In an extensive FISH analysis of 325 B-CLL cases with probes for regions 3q27, 6q21, 8q24, 11q22-q23, 12q13, 13q14, 14q32, and 17p13, multivariate analysis revealed an independent prognostic relevance of genomic aberrations (9) (Fig. 5). It was found that deletion 13q14 as a single aberration was associated with long median survival times (133 mo), whereas deletions 11q22-q23 and 17p13 were associated with poor prognoses (79 and 32 mo, respectively). Intermediate survival times were found for B-CLL cases without aberrations or with trisomy 12 (111 and 114 mo, respectively) (9).

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