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Cytogenetic complexity in chronic lymphocytic leukemia: definitions, associations, and clinical impact
Uppsala University, Science for Life Laboratory, SciLifeLab. Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Immunology, Genetics and Pathology, Experimental and Clinical Oncology.ORCID iD: 0000-0002-5634-7156
Munich Leukemia Lab, Munich, Germany.
G Papanicolaou Hosp, Dept Hematol, Thessaloniki, Greece;G Papanicolaou Hosp, HCT Unit, Thessaloniki, Greece.
Hosp del Mar, Serv Patol, Lab Citogenet Mol, Barcelona, Spain;Inst Hosp del Mar Invest Med IMIM, Programa Recerca Canc, Grp Recerca Translac Neoplasies Hematol, Barcelona, Spain.
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2019 (English)In: Blood, ISSN 0006-4971, E-ISSN 1528-0020, Vol. 133, no 11, p. 1205-1216Article in journal (Refereed) Published
Abstract [en]

Recent evidence suggests that complex karyotype (CK) defined by the presence of >= 3 chromosomal aberrations (structural and/or numerical) identified by using chromosome-banding analysis (CBA) may be relevant for treatment decision-making in chronic lymphocytic leukemia (CLL). However, many challenges toward the routine clinical application of CBA remain. In a retrospective study of 5290 patients with available CBA data, we explored both clinicobiological associations and the clinical impact of CK in CLL. We found that patients with >= 5 abnormalities, defined as high-CK, exhibit uniformly dismal clinical outcomes, independently of clinical stage, TP53 aberrations (deletion of chromosome 17p and/or TP53 mutations [TP53abs]), and the expression of somatically hypermutated (M-CLL) or unmutated immunoglobulin heavy variable genes. Thus, they contrasted with CK cases with 3 or 4 aberrations (low-CK and intermediate-CK, respectively) who followed aggressive disease courses only in the presence of TP53abs. At the other end of the spectrum, patients with CK and 112,119 displayed an exceptionally indolent profile. Building upon CK, TP53abs, and immunoglobulin heavy variable gene somatic hyper-mutation status, we propose a novel hierarchical model in which patients with high-CK exhibit the worst prognosis, whereas those with mutated CLL lacking CK or TP53abs, as well as CK with 112,119, show the longest overall survival. Thus, CK should not be axiomatically considered unfavorable in CLL, representing a heterogeneous group with variable clinical behavior. High-CK with >= 5 chromosomal aberrations emerges as prognostically adverse, independent of other biomarkers. Prospective clinical validation is warranted before ultimately incorporating high-CK in risk stratification of CLL.

Place, publisher, year, edition, pages
2019. Vol. 133, no 11, p. 1205-1216
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Hematology
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URN: urn:nbn:se:uu:diva-381085DOI: 10.1182/blood-2018-09-873083ISI: 000461508300007PubMedID: 30602617OAI: oai:DiVA.org:uu-381085DiVA, id: diva2:1306309
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EU, Horizon 2020EU, Horizon 2020Swedish Research CouncilAvailable from: 2019-04-23 Created: 2019-04-23 Last updated: 2019-04-23Bibliographically approved

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Baliakas, PanagiotisPlevova, KarlaVisentin, AndreaTrentin, LivioStamatopoulos, Kostas
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