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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

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,...

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Autores principales: 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, Espinet, Blanca
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Fondazione Ferrata Storti 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8883543/
https://www.ncbi.nlm.nih.gov/pubmed/33691382
http://dx.doi.org/10.3324/haematol.2020.274456
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author 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
Espinet, Blanca
author_facet 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
Espinet, Blanca
author_sort Ramos-Campoy, Silvia
collection PubMed
description 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.
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spelling pubmed-88835432022-03-18 Chromosome banding analysis and genomic microarrays are both useful but not equivalent methods for genomic complexity risk stratification in chronic lymphocytic leukemia patients 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 Espinet, Blanca Haematologica Article 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. Fondazione Ferrata Storti 2021-03-11 /pmc/articles/PMC8883543/ /pubmed/33691382 http://dx.doi.org/10.3324/haematol.2020.274456 Text en Copyright© 2022 Ferrata Storti Foundation https://creativecommons.org/licenses/by-nc/4.0/This article is distributed under the terms of the Creative Commons Attribution Noncommercial License (by-nc 4.0) which permits any noncommercial use, distribution, and reproduction in any medium, provided the original author(s) and source are credited.
spellingShingle Article
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
Espinet, Blanca
Chromosome banding analysis and genomic microarrays are both useful but not equivalent methods for genomic complexity risk stratification in chronic lymphocytic leukemia patients
title Chromosome banding analysis and genomic microarrays are both useful but not equivalent methods for genomic complexity risk stratification in chronic lymphocytic leukemia patients
title_full Chromosome banding analysis and genomic microarrays are both useful but not equivalent methods for genomic complexity risk stratification in chronic lymphocytic leukemia patients
title_fullStr Chromosome banding analysis and genomic microarrays are both useful but not equivalent methods for genomic complexity risk stratification in chronic lymphocytic leukemia patients
title_full_unstemmed Chromosome banding analysis and genomic microarrays are both useful but not equivalent methods for genomic complexity risk stratification in chronic lymphocytic leukemia patients
title_short Chromosome banding analysis and genomic microarrays are both useful but not equivalent methods for genomic complexity risk stratification in chronic lymphocytic leukemia patients
title_sort chromosome banding analysis and genomic microarrays are both useful but not equivalent methods for genomic complexity risk stratification in chronic lymphocytic leukemia patients
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8883543/
https://www.ncbi.nlm.nih.gov/pubmed/33691382
http://dx.doi.org/10.3324/haematol.2020.274456
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