Cytogenetic Landscape of Complex Karyotypes Across Hematological Malignancies: Common and Disease-Specific Patterns in a Large Single-Center Cohort.
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Cytogenetics remains an important method for evaluating hematological malignancies. Although recurring chromosomal abnormalities correlate with subtypes, complex karyotype (CK) has strong prognostic value related to overall survival. Cytogenetic data of patients with CK detected at the Department of Medical Genetics, Ankara University Faculty of Medicine over 8 years were examined in this study. A total of 16 437 bone marrow or peripheral blood samples were analyzed cytogenetically. Among them, 385 samples corresponding to 318 patients (2.34%) had complex cytogenetic abnormalities. Demographic characteristics, age distribution, hematological diagnoses, and cytogenetic findings were retrospectively evaluated. Among 385 CK samples, 200 (52%) were males and 29 (8%) were in the pediatric age group (defined as ≤ 18 years). The mean age at CK detection was 9.14 years (median: 9) in pediatric patients and 57.12 years (median: 60) in adults. Survival analysis showed that 33.77% of patients died within a mean of 7.55 months (median: 4) after CK detection. The consistent detection of chromosome 17p abnormalities across all groups (22% of patients) represented one of the most frequent shared cytogenetic findings in this CK cohort. Disease-specific alterations were most common in multiple myeloma with chromosome 1 abnormalities being predominant (75%), whereas alterations of chromosomes 5 and 7 predominated in acute myeloid leukemia (61%) and myelodysplastic syndromes (50%). Cytogenetic findings suggestive of a monosomal karyotype were observed frequently in multiple myeloma (35.5%). Comparison of cytogenetic and FISH findings showed that targeted FISH panels frequently fail to detect karyotypical complexity, and diagnostic yield varies significantly among disease groups. In multiple myeloma, plasma cell-enriched samples are more effective in detecting CK with FISH analysis compared to conventional bone marrow samples. CK remains a significant cytogenetic marker in hematological malignancies. Although genome-wide molecular methods are increasingly available, conventional cytogenetic analysis remains more accessible in practice. This study demonstrates the value of conventional cytogenetics in CK detection and provides one of the most comprehensive datasets from Turkey.