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

Chromosome banding analysis and genomic microarrays are both useful but not equivalent methods for genomic complexity risk stratification in chronic lymphocytic leukemia patients
Chromosome banding analysis and genomic microarrays are both useful but not equivalent methods for genomic complexity risk stratification in chronic lymphocytic leukemia patients
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 classified into each category were detected, but only a moderate agreement was observed between methods when focusing in 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 (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.
0390-6078
Ramos-campoy, Silvia
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Puiggros, Anna
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Beà, Sílvia
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Bougeon, Sandrine
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Larráyoz, María José
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Costa, Dolors
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Parker, Helen
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Rigolin, Gian Matteo
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Ortega, Margarita
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Blanco, María Laura
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Collado, Rosa
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Salgado, Rocío
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Baumann, Tycho
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Gimeno, Eva
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Moreno, Carolina
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Bosch, Francesc
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Calvo, Xavier
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Calasanz, María José
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Cuneo, Antonio
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Strefford, Jonathan C.
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Nguyen-khac, Florence
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Oscier, David
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Haferlach, Claudia
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Schoumans, Jacqueline
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Espinet, Blanca
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Ramos-campoy, Silvia
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Puiggros, Anna
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Beà, Sílvia
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Bougeon, Sandrine
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Larráyoz, María José
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Costa, Dolors
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Parker, Helen
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Rigolin, Gian Matteo
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Ortega, Margarita
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Blanco, María Laura
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Collado, Rosa
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Baumann, Tycho
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Gimeno, Eva
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Moreno, Carolina
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Bosch, Francesc
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Calvo, Xavier
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Calasanz, María José
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Cuneo, Antonio
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Strefford, Jonathan C.
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Nguyen-khac, Florence
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Oscier, David
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Haferlach, Claudia
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Schoumans, Jacqueline
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Espinet, Blanca
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Ramos-campoy, Silvia, Puiggros, Anna, Beà, Sílvia, Bougeon, Sandrine, Larráyoz, María José, Costa, Dolors, Parker, Helen, Rigolin, Gian Matteo, Ortega, Margarita, Blanco, María Laura, Collado, Rosa, Salgado, Rocío, Baumann, Tycho, Gimeno, Eva, Moreno, Carolina, Bosch, Francesc, Calvo, Xavier, Calasanz, María José, Cuneo, Antonio, Strefford, Jonathan C., Nguyen-khac, Florence, Oscier, David, Haferlach, Claudia, Schoumans, Jacqueline and Espinet, Blanca (2021) Chromosome banding analysis and genomic microarrays are both useful but not equivalent methods for genomic complexity risk stratification in chronic lymphocytic leukemia patients. Haematologica. (doi:10.3324/haematol.2020.274456).

Record type: Article

Abstract

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 classified into each category were detected, but only a moderate agreement was observed between methods when focusing in 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 (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.

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e-pub ahead of print date: 11 March 2021
Published date: 11 March 2021

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Local EPrints ID: 447714
URI: http://eprints.soton.ac.uk/id/eprint/447714
ISSN: 0390-6078
PURE UUID: 625cd975-a447-473c-a5a2-add5bb9d5268
ORCID for Helen Parker: ORCID iD orcid.org/0000-0001-8308-9781
ORCID for Jonathan C. Strefford: ORCID iD orcid.org/0000-0002-0972-2881

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Date deposited: 18 Mar 2021 17:53
Last modified: 17 Mar 2024 02:59

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Contributors

Author: Silvia Ramos-campoy
Author: Anna Puiggros
Author: Sílvia Beà
Author: Sandrine Bougeon
Author: María José Larráyoz
Author: Dolors Costa
Author: Helen Parker ORCID iD
Author: Gian Matteo Rigolin
Author: Margarita Ortega
Author: María Laura Blanco
Author: Rosa Collado
Author: Rocío Salgado
Author: Tycho Baumann
Author: Eva Gimeno
Author: Carolina Moreno
Author: Francesc Bosch
Author: Xavier Calvo
Author: María José Calasanz
Author: Antonio Cuneo
Author: Florence Nguyen-khac
Author: David Oscier
Author: Claudia Haferlach
Author: Jacqueline Schoumans
Author: Blanca Espinet

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