Mounting evidence underscores the clinical value of cytogenetic analysis in chronic lymphocytic leukemia (CLL), particularly as it allows the identification of complex karyotype, that has recently emerged as a prognostic and potentially predictive biomarker. That said, explicit recommendations regarding the methodology and clinical interpretation of either chromosome banding analysis (CBA) or chromosome microarray analysis (CMA) are still lacking. We herein present the consensus of the Cytogenetic Steering Scientific Committee of ERIC, the European Research Initiative on CLL, regarding methodological issues as well as clinical interpretation of CBA/CMA and discuss their relevance in CLL. ERIC considers CBA standardized and feasible for CLL on the condition that standards are met, extending from the use of novel mitogens to the accurate interpretation of the findings. On the other hand, CMA, is also standardized, however, robust data on its clinical utility are still scarce. In conclusion, cytogenetic analysis is not yet mature enough to guide treatment choices in CLL. That notwithstanding, ERIC encourages the wide application of CBA, and potentially also CMA, in clinical trials in order to obtain robust evidence regarding the predictive value of specific cytogenetic profiles towards refining risk stratification and improving the management of patients with CLL.

Department of Clinical Genetics Uppsala University Hospital Sweden

Department of Haematology Royal Bournemouth Hospital United Kingdom

Department of Hematology Cancer Center Amsterdam Lymphoma and Myeloma Center Amsterdam Amsterdam University Medical Centers University of Amsterdam the Netherlands

Department of Immunology Genetics and Pathology Science for Life Laboratory Uppsala University Sweden

Department of Internal Medicine Hematology and Oncology University Hospital Brno and Faculty of Medicine Masaryk University Brno Czech Republic

Department of Molecular Medicine and Surgery Karolinska Institutet Stockholm Sweden

Genomics Laboratory Department of Clinical Genetics Amsterdam University Medical Centers University of Amsterdam the Netherlands

Hematology Department and HCT Unit G Papanicolaou Hospital Thessaloniki Greece

Institute of Applied Biosciences Center for Research and Technology Hellas Thessaloniki Greece

Institute of Medical Genetics and Genomics Faculty of Medicine Masaryk University and University Hospital Brno Czech Republic

MLL Munich Leukemia Laboratory Munich Germany

Molecular Cytogenetics Laboratory Pathology Department Hospital del Mar Barcelona Spain

Strategic Research Program in CLL and BCell Neoplasia Unit Division of Experimental Oncology IRCCS Ospedale San Raffaele and Università Vita Salute San Raffaele Milan Italy

Translational Research on Hematological Neoplasms Group Cancer Research Program Institut Hospital del Mar d'Investigacions Mèdiques Barcelona Spain

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