Evaluation of Multimodality Cytogenetic Testing in CLL to Determine Best Testing Strategy

      Background: At Seattle Cancer Care Alliance CLL patients routinely receive FISH evaluation for 11q, 12, 13q, and 17p as well as karyotyping with or without DSP30 stimulation to provide important prognostic and therapeutic information. Chromosomal genomic array testing (CGAT) potentially offers additional cytogenetic information in CLL. Method: We performed a retrospective study of 266 CLL samples, of which 37 patients had available CGAT, karyotype, and FISH results for comparison. Correlation with clinical, pathological, and outcome data was also performed. Results: Clonal abnormalities were identified in 120 of 148 samples (81.1%) karyotyped with a DSP30 culture compared with 63 of 118 samples (52.5%) karyotyped without (P <0.0001). Among the 37 patients tested with all three modalities, there was perfect agreement identifying trisomy 12. FISH and CGAT gave similar results for deletions of 11q and 13q, while karyotype missed 22% of the 11q- and 47% of the 13q- cases. CGAT detected more cases of 17p deletions compared to FISH (12/15 vs 10/15), but less than karyotype (12/15 vs 14/15). CGAT provided additional information on chromosomal complexity. Cytogenetic alterations ≥3 were found in 70.3% of cases by CGAT compared to 59.3% by karyotype. Additionally, CGAT also identified abnormalities in 80% of patients with normal karyotype and cnLOH in 4% of 191 unique alterations observed. Conclusions: DSP30 stimulated karyotype and CGAT provide significant benefits in CLL clinical testing and consideration should be given to utilizing these technologies in the routine evaluation of CLL. FISH may be replaced by CGAT.
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