Chromosome banding analysis and genomic microarrays are both useful but not equivalent methods for genomic complexity risk stratification in chronic lymphocytic leukemia patients.

Autor:	Ramos-Campoy S; Molecular Cytogenetics Laboratory, Pathology Department, Hospital del Mar, Barcelona, Spain; Translational Research on Hematological Neoplasms Group, Cancer Research Program, Institut Hospital del Mar d'Investigacions Mèdiques (IMIM), Barcelona, Spain., Puiggros A; Molecular Cytogenetics Laboratory, Pathology Department, Hospital del Mar, Barcelona, Spain; Translational Research on Hematological Neoplasms Group, Cancer Research Program, Institut Hospital del Mar d'Investigacions Mèdiques (IMIM), Barcelona, Spain. apuiggros@imim.es., Beà S; Hematopathology Unit, Hospital Clínic, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), CIBERONC, Barcelona, Spain., Bougeon S; Oncogenomic Laboratory, Hematology Service, Lausanne University Hospital, Lausanne, Switzerland., Larráyoz MJ; Cytogenetics and Hematological Genetics Services, Department of Genetics, University of Navarra, Pamplona, Spain., Costa D; Hematopathology Unit, Hospital Clínic, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), CIBERONC, Barcelona, Spain., Parker H; Cancer Sciences, Faculty of Medicine, University of Southampton, Southampton, UK., Rigolin GM; Hematology Section, St. Anna University Hospital, Ferrara, Italy., Ortega M; Department of Hematology, University Hospital Vall d'Hebron, Barcelona, Spain., Blanco ML; Department of Hematology, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain., Collado R; Department of Hematology, Consorcio Hospital General Universitario, Valencia, Spain., Salgado R; Cytogenetics Laboratory, Hematology Department, Fundación Jiménez Díaz, Madrid, Spain., Baumann T; Hematopathology Unit, Hospital Clínic, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), CIBERONC, Barcelona, Spain., Gimeno E; Molecular Cytogenetics Laboratory, Pathology Department, Hospital del Mar, Barcelona, Spain; Applied Clinical Research in Hematological Malignances, Cancer Research Program, IMIMHospital del Mar, Barcelona, Spain., Moreno C; Department of Hematology, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain., Bosch F; Department of Hematology, University Hospital Vall d'Hebron, Barcelona, Spain., Calvo X; Molecular Cytogenetics Laboratory, Pathology Department, Hospital del Mar, Barcelona, Spain; Translational Research on Hematological Neoplasms Group, Cancer Research Program, Institut Hospital del Mar d'Investigacions Mèdiques (IMIM), Barcelona, Spain., Calasanz MJ; Cytogenetics and Hematological Genetics Services, Department of Genetics, University of Navarra, Pamplona, Spain., Cuneo A; Hematology Section, St. Anna University Hospital, Ferrara, Italy., Strefford JC; Cancer Sciences, Faculty of Medicine, University of Southampton, Southampton, UK., Nguyen-Khac F; Hematology Department and Sorbonne Université, Hopital Pitie-Salpetriere, APHP, INSERM U1138, Paris, France., Oscier D; Department of Molecular Pathology, Royal Bournemouth Hospital, Bournemouth, UK., Haferlach C; MLL Munich Leukemia Laboratory, Munich, Germany., Schoumans J; Oncogenomic Laboratory, Hematology Service, Lausanne University Hospital, Lausanne, Switzerland., Espinet B; Molecular Cytogenetics Laboratory, Pathology Department, Hospital del Mar, Barcelona, Spain; Translational Research on Hematological Neoplasms Group, Cancer Research Program, Institut Hospital del Mar d'Investigacions Mèdiques (IMIM), Barcelona, Spain. bespinet@parcdesalutmar.cat.
Jazyk:	angličtina
Zdroj:	Haematologica [Haematologica] 2022 Mar 01; Vol. 107 (3), pp. 593-603. Date of Electronic Publication: 2022 Mar 01.
DOI:	10.3324/haematol.2020.274456
Abstrakt:	Genome complexity has been associated with poor outcome in patients with chronic lymphocytic leukemia (CLL). Previous cooperative studies established five abnormalities as the cut-off that best predicts an adverse evolution by chromosome banding analysis (CBA) and genomic microarrays (GM). However, data comparing risk stratification by both methods are scarce. Herein, we assessed a cohort of 340 untreated CLL patients highly enriched in cases with complex karyotype (CK) (46.5%) with parallel CBA and GM studies. Abnormalities found by both techniques were compared. Prognostic stratification in three risk groups based on genomic complexity (0-2, 3- 4 and ≥5 abnormalities) was also analyzed. No significant differences in the percentage of patients in each group were detected, but only a moderate agreement was observed between methods when focusing on individual cases (κ=0.507; P<0.001). Discordant classification was obtained in 100 patients (29.4%), including 3% classified in opposite risk groups. Most discrepancies were technique-dependent and no greater correlation in the number of abnormalities was achieved when different filtering strategies were applied for GM. Nonetheless, both methods showed a similar concordance index for prediction of time to first treatment (TTFT) (CBA: 0.67 vs. GM: 0.65) and overall survival (CBA: 0.55 vs. GM: 0.57). High complexity maintained its significance in the multivariate analysis for TTFT including TP53 and IGHV status when defined by CBA (hazard ratio [HR] 3.23; P<0.001) and GM (HR 2.74; P<0.001). Our findings suggest that both methods are useful but not equivalent for risk stratification of CLL patients. Validation studies are needed to establish the prognostic value of genome complexity based on GM data in future prospective studies.
Databáze:	MEDLINE
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