Abstract
Several reports highlight the clinical significance of cytogenetic complexity, namely, complex karyotype (CK) identified though the performance of chromosome banding analysis (CBA) in chronic lymphocytic leukemia. Indeed, apart from a number of studies underscoring the prognostic and predictive value of CK in the chemo(immune)therapy era, mounting evidence suggests that CK could serve as an independent prognosticator and predictor even in patients treated with novel agents. In the present review, we provide an overview of the current knowledge regarding the clinical impact of CK in CLL, touching upon open issues related to the incorporation of CK in the clinical setting.
Highlights
Chronic lymphocytic leukemia (CLL) is the most common hematological malignancy among the elderly in the western world, characterized by clonal growth of mature, CD5+ B lymphocytes in the bone marrow, peripheral blood, and secondary lymphoid organs [1]
Aberrations detected with Fluorescence in situ hybridization (FISH), namely the Döhner hierarchical model, have for the last 20 years served as the backbone of CLL diagnostics, dictating the treatment choice, together with the mutation status of TP53 gene and the segregation into mutated- and unmutated-CLL (M-CLL and U-CLL respectively) [10, 11]
FISH analysis cannot provide a comprehensive overview of the genomic background of the clone, something that can be accomplished with other methodologies, such as chromosome-banding analysis (CBA), chromosome microarray analysis (CMA) or genome-wide analysis [12,13,14]
Summary
Chronic lymphocytic leukemia (CLL) is the most common hematological malignancy among the elderly in the western world, characterized by clonal growth of mature, CD5+ B lymphocytes in the bone marrow, peripheral blood, and secondary lymphoid organs [1]. A great number of clonal- and patient-related features with prognostic and/or predictive value have been identified over the last decades, in an effort to optimize the management of CLL [3,4,5,6,7,8,9]. FISH analysis cannot provide a comprehensive overview of the genomic background of the clone, something that can be accomplished with other methodologies, such as chromosome-banding analysis (CBA), chromosome microarray analysis (CMA) or genome-wide analysis [12,13,14]. A major advantage of these methods, especially CBA, is the identification of complex karyotype (CK) which according to recent reports is a significant prognostic feature with the potential of becoming a novel predictive biomarker [4, 15]. A number of methodological issues, mainly the obtainment of adequate number of representative metaphases, have been overcome with the application of specific culture protocols, making CBA a robust and reproducible method [16,17,18]
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