The complex karyotype landscape in chronic lymphocytic leukemia allows the refinement of the risk of Richter syndrome transformation

Autor: Andrea Visentin, Laura Bonaldi, Gian Matteo Rigolin, Francesca Romana Mauro, Annalisa Martines, Federica Frezzato, Stefano Pravato, Leila Romano Gargarella, Maria Antonella Bardi, Maurizio Cavallari, Eleonora Volta, Francesco Cavazzini, Mauro Nanni, Monica Facco, Francesco Piazza, Anna Guarini, Robin Foà, Gianpietro Semenzato, Antonio Cuneo, Livio Trentin
Jazyk: angličtina
Rok vydání: 2021
Předmět:
Zdroj: Haematologica, Vol 107, Iss 4 (2021)
Druh dokumentu: article
ISSN: 0390-6078
1592-8721
DOI: 10.3324/haematol.2021.278304
Popis: Complex karyotype (CK) at chronic lymphocytic leukemia (CLL) diagnosis is a negative biomarker of adverse outcome. Since the impact of CK and its subtypes, namely type-2 CK (CK with major structural abnormalities) or high-CK (CK with ≥5 chromosome abnormalities), on the risk of developing Richter syndrome (RS) is unknown, we carried out a multicenter real-life retrospective study to test its prognostic impact. Among 540 CLL patients, 107 harbored a CK at CLL diagnosis, 78 were classified as CK2 and 52 as high-CK. Twenty-eight patients developed RS during a median follow-up of 6.7 years. At the time of CLL diagnosis, CK2 and high-CK were more common and predicted the highest risk of RS transformation, together with advanced Binet stage, unmutated (U)-IGHV, 11q-, and TP53 abnormalities. We integrated these variables into a hierarchical model: high-CK and/or CK2 patients showed a 10-year time to RS (TTRS) of 31%; U-IGHV/11q- /TP53 abnormalities/Binet stage B-C patients had a 10-year TTRS of 12%; mutated (M)-IGHV without CK and TP53 disruption a 10-year TTRS of 3% (P
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