Rapid progression to Richter’s syndrome in patient with chronic lymphocytic leukemia and near-triploid karyotype

Abstract

Introduction. The presence of aneuploidy in patients with chronic lymphocytic leukemia (CLL), except trisomy 12, is quite uncommon. The frequency of hyperdiploidy or near-tetraploidy ocurrs in 1-3% of the CLL patients and usually confer poor prognosis. Case report. We report a patient in a progressive phase of CLL with near-triploid karyotype. Cytogenetic analysis was performed and complemented with molecular methods and pathohistological examination. The complex karyotype was accompanied with the TP53, C-MYC and IGH gene disruptions, the most probable cause of rapid evolution into Richter's syndrome. Conclusion. Utilization of comprehensive diagnostic techniques is highly recommended in patients with progressive phase of CLL, primarily for the adequate choice of management strategy. The current case confirms poor prognosis of the previously reported CLL patients with aneuploidy.