Cytogenetic analysis has become a standard procedure in the management of newly diagnosed chronic lymphocytic leukemia patients. Prognostic information is reported based on the presence of certain abnormalities and karyotype complexity after conventional karyotyping and/or fluorescence in situ hybridization (FISH). The information on cytogenetic abnormalities occurring in isolation is robust; however, the performance of patients with two or more cytogenetic abnormalities is heterogeneous and information is scarce. This retrospective study analyzed whether information on the precise determination of primary cytogenetic abnormalities can have some added value in terms of risk stratification in chronic lymphocytic leukemia (CLL) patients. The study cohort was 121 patients without the need to start treatment for CLL immediately after diagnosis but had completed initial cytogenetic analysis. Results from conventional karyotyping after stimulation of CLL cells and FISH analysis were combined. Risk stratification based purely on the determination of primary cytogenetic abnormalities was effective in CLL patients, with comparable results in stratification based on the presence of certain abnormalities and karyotype complexity. It is recommended that information on suspected primary abnormalities is included in cytogenetic reports, especially in patients with two or more abnormalities, because this can provide valuable additional information.
