Onkologie 2020: 14(Suppl.G): 175-178 | DOI: 10.36290/xon.2020.100

Complex karyotype in a younger patient with chronic lymphocytic leukemia

Martin Šimkovič¹, Lukáš Smolej¹, Petra Kašparová², Jana Rabasová³, Pavlína Havlíková³, Dominika Écsiová¹, Pavel Vodárek¹, Miriam Lánská¹, Jakub Radocha¹, David Belada¹, Pavel Žák¹

¹ IV. interní hematologická klinika, Fakultní nemocnice Hradec Králové

² Fingerlandův ústav patologie, Fakultní nemocnice Hradec Králové

³ Oddělení lékařské genetiky, Fakultní nemocnice Hradec Králové

Novel therapies directed against B-cell receptor signalling pathways and antiapoptic protein Bcl-2 have improved survival of patients with chronic lymphocytic leukemia (CLL). The unprecedented expansion of therapeutic possibilities has diminished the role of allogeneic hematopoietic cell transplantation (allo-HCT) in CLL. Nevertheless, allo-HCT remains the only potentially curative modality for patients with high-risk disease. The case report describes treatment of a high-risk CLL patient with complex karyotype. In 2019, a 44-years old woman with early progression after FCR underwent ibrutinib treatment for paranasal involvement by CLL. Allo-HCT was performed at the time of complete remission. However, the disease relapsed early (months) after allo-HCT. The relapse manifested as severe hypercalcemia due to skeletal involvement. Richter's transformation to diffuse large B-cell lymphoma was revealed by biopsy of osteolytic lesion affecting pelvis. Subsequent retreatment with ibrutinib and R-CHOP chemoimmunotherapy did not achieve long-term control of the disease. This case report demonstrates a complicated treatment and highly unfavourable prognosis of a younger CLL patient with complex karyotype who developed Richter's transformation early after allo-HCT.

Keywords: chronic lymphocytic leukemia, Richter's transformation, ibrutinib, venetoclax, allogeneic hematopoietic cell transplantation, complex karyotype.

Published: January 8, 2021  Show citation