Chromosome banding analysis and genomic microarrays are both useful but not equivalent methods for genomic complexity risk stratification in chronic lymphocytic leukemia patients

• Published in: Haematologica (Roma) 2022-03, Vol.107 (3), p.593-603
• Main Authors: Ramos-Campoy, Silvia, Puiggros, Anna, Beà, Sílvia, Bougeon, Sandrine, Larráyoz, María José, Costa, Dolors, Parker, Helen, Rigolin, Gian Matteo, Ortega, Margarita, Blanco, María Laura, Collado, Rosa, Salgado, Rocío, Baumann, Tycho, Gimeno, Eva, Moreno, Carolina, Bosch, Francesc, Calvo, Xavier, Calasanz, María José, Cuneo, Antonio, Strefford, Jonathan C, Nguyen-Khac, Florence, Oscier, David, Haferlach, Claudia, Schoumans, Jacqueline, Espinet, Blanca
• Format: Article
• Language: English
• Subjects: Chromosome Aberrations; Chromosome Banding; Genomics; Humans; Leukemia, Lymphocytic, Chronic, B-Cell - diagnosis; Leukemia, Lymphocytic, Chronic, B-Cell - genetics; Mutation; Prognosis; Risk Assessment
• ISSN: 0390-6078; 1592-8721
• DOI: 10.3324/haematol.2020.274456

Genome complexity has been associated with poor outcome in patients with chronic lymphocytic leukemia (CLL). Previous cooperative studies established five abnormalities as the cut-off that best predicts an adverse evolution by chromosome banding analysis (CBA) and genomic microarrays (GM). However, data comparing risk stratification by both methods are scarce. Herein, we assessed a cohort of 340 untreated CLL patients highly enriched in cases with complex karyotype (CK) (46.5%) with parallel CBA and GM studies. Abnormalities found by both techniques were compared. Prognostic stratification in three risk groups based on genomic complexity (0-2, 3- 4 and ≥5 abnormalities) was also analyzed. No significant differences in the percentage of patients in each group were detected, but only a moderate agreement was observed between methods when focusing on individual cases (κ=0.507; P