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Updated: Jun 6, 2026

Immunoglobulin Gene Sequence Analysis In Chronic Lymphocytic Leukemia: From Patient Material To Sequence Interpretation
Published on: November 26, 2018
Clinicobiologic importance of cytogenetic lesions in chronic lymphocytic leukemia
Francesco Cavazzini1, Maria Ciccone, Massimo Negrini
1Section of Hematology, Department of Biomedical Sciences and Advanced Therapies, University of Ferrara, Via Savonarola 9, Ferrara, Italy.
Abstract:
Molecular cytogenetic lesions play a major role in the pathogenesis of chronic lymphocytic leukemia (CLL) and represent important prognostic markers. Besides FISH, conventional banding analysis using effective mitogens is important for an accurate assessment of the cytogenetic profile of CLL. The most frequent aberrations are represented by 13q-, 11q-, +12, 6q- and 14q32/IGH translocations and 17p-. Chromosome translocations and complex karyotype may occur in up to 30 and 16% of the cases, respectively. The frequency of 17p- and 11q- is higher in patients requiring treatment and in relapsed/refractory patients, reflecting the association of these rearrangements with unfavorable prognosis. Mutations of the TP53 gene may also confer an inferior outcome, as is the case with 14q32 translocations and unbalanced translocations. Evidence was provided that distinct treatment approaches may be effective in specific cytogenetic entities of CLL, making molecular cytogenetic investigations a necessary tool for a modern diagnostic work-up in CLL.
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