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

Marija Denčić-Fekete; Tatjana Terzić; Ljubomir Jaković; Vladislava  Djurašinović; Teodora Karan Djurašević; Milica  Radojković; Sonja  Pavlović; Andrija Bogdanović

doi:10.2298/VSP211111060D

Marija Denčić-Fekete University of Belgrade, Faculty of Medicine, Belgrade, Serbia
Tatjana Terzić University of Belgrade, Faculty of Medicine, Belgrade, Serbia
Ljubomir Jaković University of Belgrade, Faculty of Medicine, Belgrade, Serbia
Vladislava Djurašinović University of Belgrade, Faculty of Medicine, Belgrade, Serbia
Teodora Karan Djurašević University of Belgrade, Institute of Molecular Genetics and Genetic Engineering, Belgrade, Serbia
Milica Radojković University of Belgrade, Faculty of Medicine, Belgrade, Serbia
Sonja Pavlović University of Belgrade, Faculty of Medicine, Belgrade, Serbia
Andrija Bogdanović University of Belgrade, Faculty of Medicine, Belgrade, Serbi

DOI: https://doi.org/10.2298/VSP211111060D

Keywords: abnormal karyotype, chronic lymphocytic leukemia, disease progression, karyotyping, richter’s syndrome

Abstract

Introduction. The presence of aneuploidy in patients diagnosed with chronic lymphocytic leukemia (CLL), except trisomy 12, is considered quite uncommon. Hyperdiploidy or near-tetraploidy (occurring in 1–3% of all CLL patients) usually confer a poor prognosis. Case report. We report a patient in a progressive phase of CLL with near–triploid karyotype. The prognosis of the disease was more precisely determined by applying the cytogenetic analysis of the karyotype and was complemented with molecular methods and pathohistological examination. The complex karyotype was accompanied by the TP53, C-MYC, and IGH gene disruptions, the most probable cause of rapid evolution into Richter’s syndrome. Conclusion. The use of comprehensive contemporary diagnostic techniques is highly recommended in patients who are in the progressive phase of CLL, primarily for the adequate choice of management strategy. The presented case confirms that aneuploidy in CLL patients indicates poor prognosis, which is in accordance with previous publications reporting on cases of CLL patients with aneuploidy.

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