24 results on '"Enjuanes, Anna"'
Search Results
2. Detection of early seeding of Richter transformation in chronic lymphocytic leukemia
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Nadeu, Ferran, Royo, Romina, Massoni-Badosa, Ramon, Playa-Albinyana, Heribert, Garcia-Torre, Beatriz, Duran-Ferrer, Martí, Dawson, Kevin J., Kulis, Marta, Diaz-Navarro, Ander, Villamor, Neus, Melero, Juan L., Chapaprieta, Vicente, Dueso-Barroso, Ana, Delgado, Julio, Moia, Riccardo, Ruiz-Gil, Sara, Marchese, Domenica, Giró, Ariadna, Verdaguer-Dot, Núria, Romo, Mónica, Clot, Guillem, Rozman, Maria, Frigola, Gerard, Rivas-Delgado, Alfredo, Baumann, Tycho, Alcoceba, Miguel, González, Marcos, Climent, Fina, Abrisqueta, Pau, Castellví, Josep, Bosch, Francesc, Aymerich, Marta, Enjuanes, Anna, Ruiz-Gaspà, Sílvia, López-Guillermo, Armando, Jares, Pedro, Beà, Sílvia, Capella-Gutierrez, Salvador, Gelpí, Josep Ll., López-Bigas, Núria, Torrents, David, Campbell, Peter J., Gut, Ivo, Rossi, Davide, Gaidano, Gianluca, Puente, Xose S., Garcia-Roves, Pablo M., Colomer, Dolors, Heyn, Holger, Maura, Francesco, Martín-Subero, José I., and Campo, Elías
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- 2022
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3. IGLV3-21R110 mutation has prognostic value in patients with treatment-naive chronic lymphocytic leukemia
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Syrykh, Charlotte, primary, Pons-Brun, Berta, additional, Russiñol, Núria, additional, Playa-Albinyana, Heribert, additional, Baumann, Tycho, additional, Duran-Ferrer, Martí, additional, Kulis, Marta, additional, Carbó-Meix, Anna, additional, Mozas, Pablo, additional, Alcoceba, Miguel, additional, González, Marcos, additional, Navarro-Bailón, Almudena, additional, Colado, Enrique, additional, Payer, Ángel R., additional, Aymerich, Marta, additional, Terol, María J., additional, Lu, Junyan, additional, Knisbacher, Binyamin A., additional, Hahn, Cynthia K., additional, Ruiz-Gaspà, Sílvia, additional, Enjuanes, Anna, additional, Wu, Catherine J., additional, Getz, Gad, additional, Zenz, Thorsten, additional, López-Guillermo, Armando, additional, Martín-Subero, José I., additional, Colomer, Dolors, additional, Delgado, Julio, additional, Campo, Elías, additional, and Nadeu, Ferran, additional
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- 2023
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4. IGLV3-21R110 mutation has prognostic value in patients with treatment-naive chronic lymphocytic leukemia
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Fundación la Caixa, Ministerio de Ciencia e Innovación (España), Agencia Estatal de Investigación (España), Instituto de Salud Carlos III, European Commission, Generalitat de Catalunya, National Institutes of Health (US), National Cancer Institute (US), Centro de Investigación Biomédica en Red Cáncer (España), Ministerio de Universidades (España), Fundación Científica Asociación Española Contra el Cáncer, National Heart, Lung, and Blood Institute (US), American Association for Cancer Research, Lady Tata Memorial Trust, Institución Catalana de Investigación y Estudios Avanzados, Centro Esther Koplowitz, Syrykh, Charlotte, Pons-Brun, Berta, Russiñol, Núria, Playa-Albinyana, Heribert, Baumann, Tycho, Duran-Ferrer, Martí, Kulis, Marta, Carbó-Meix, Anna, Mozas, Pablo, Alcoceba, Miguel, González, Marcos, Navarro-Bailón, Almudena, Colado, Enrique, Payer, Ángel R., Aymerich, Marta, Terol, María J., Lu, Junyan, Knisbacher, Binyamin A., Hahn, Cynthia K., Ruiz-Gaspà, Sílvia, Enjuanes, Anna, Wu, Catherine J., Getz, Gad, Zenz, Thorsten, López-Guillermo, Armando, Martín-Subero, José I., Colomer, Dolors, Delgado, Julio, Campo, Elías, Nadeu, Ferran, Fundación la Caixa, Ministerio de Ciencia e Innovación (España), Agencia Estatal de Investigación (España), Instituto de Salud Carlos III, European Commission, Generalitat de Catalunya, National Institutes of Health (US), National Cancer Institute (US), Centro de Investigación Biomédica en Red Cáncer (España), Ministerio de Universidades (España), Fundación Científica Asociación Española Contra el Cáncer, National Heart, Lung, and Blood Institute (US), American Association for Cancer Research, Lady Tata Memorial Trust, Institución Catalana de Investigación y Estudios Avanzados, Centro Esther Koplowitz, Syrykh, Charlotte, Pons-Brun, Berta, Russiñol, Núria, Playa-Albinyana, Heribert, Baumann, Tycho, Duran-Ferrer, Martí, Kulis, Marta, Carbó-Meix, Anna, Mozas, Pablo, Alcoceba, Miguel, González, Marcos, Navarro-Bailón, Almudena, Colado, Enrique, Payer, Ángel R., Aymerich, Marta, Terol, María J., Lu, Junyan, Knisbacher, Binyamin A., Hahn, Cynthia K., Ruiz-Gaspà, Sílvia, Enjuanes, Anna, Wu, Catherine J., Getz, Gad, Zenz, Thorsten, López-Guillermo, Armando, Martín-Subero, José I., Colomer, Dolors, Delgado, Julio, Campo, Elías, and Nadeu, Ferran
- Abstract
Chronic lymphocytic leukemia (CLL) has high biological and clinical heterogeneity.1,2 A few prognostic factors are used in clinical practice, including immunoglobulin heavy-chain variable (IGHV) gene somatic hypermutation (SHM) status, chromosome aberrations, and gene mutations, which remain insufficient for personalized patient management.3,4 Recent studies have shown that expression of the immunoglobulin lambda light chain IGLV3-21 gene carrying an SHM-derived G>C mutation changing the glycine at position 110 to an arginine (IGLV3-21R110) defines a subset of CLL with an intermediate epigenetic profile and an aggressive clinical course.5,6 When occurring on the IGLV3-21∗01 or ∗04 alleles, the R110 mutation allows homotypic B-cell receptor (BCR) interactions, triggering cell-autonomous BCR signaling5,7 and/or facilitating T-cell–independent engagement with superantigen.8 IGLV3-21R110 has been detected in up to 6.5% of patients with CLL at diagnosis and in up to 25% of patients enrolled in clinical trials.5,6,9 We6 and others5 have shown that all CLL cases belonging to aggressive stereotyped subset #2 carried the IGLV3-21R110. Nonetheless, approximately half of IGLV3-21R110 CLL are not classified as stereotyped subset #2 but seem to have a similar clinical outcome,5,6 suggesting that the conventional stereotyped subset #2 classification might not completely recognize this clinically aggressive subgroup of CLL. In addition, IGLV3-21R110 seems to have a prognostic value independent of the IGHV gene SHM status and methylation–based epigenetic subtypes.5,6 However, further studies in independent cohorts are needed to support its application in clinical practice.1,2,10-12 The aim of this study was to assess the prognostic value of IGLV3-21R110 in large and independent population-based cohorts of patients with CLL.
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- 2023
5. IGLV3-21$^{R110}$ mutation has prognostic value in patients with treatment-naive chronic lymphocytic leukemia
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Nadeu, Ferran; https://orcid.org/0000-0003-2910-9440, Syrykh, Charlotte, Pons-Brun, Berta, Russiñol, Núria, Playa-Albinyana, Heribert; https://orcid.org/0000-0002-3447-3848, Baumann, Tycho Stephan, Duran-Ferrer, Martí; https://orcid.org/0000-0003-1666-5819, Kulis, Marta; https://orcid.org/0000-0001-8104-9620, Carbó-Meix, Anna, Mozas, Pablo; https://orcid.org/0000-0001-9528-4971, Alcoceba, Miguel, González, Marcos; https://orcid.org/0000-0001-6637-1072, Navarro-Bailón, Almudena; https://orcid.org/0000-0002-7972-5666, Colado, Enrique, Payer, Ángel, Aymerich, Marta, Terol, María José, Lu, Junyan; https://orcid.org/0000-0002-9211-0746, Knisbacher, Binyamin Asher; https://orcid.org/0000-0002-4962-9956, Hahn, Cynthia K; https://orcid.org/0000-0001-8284-7261, Ruiz-Gaspà, Sílvia, Enjuanes, Anna, Wu, Catherine J; https://orcid.org/0000-0002-3348-5054, Getz, Gad, Zenz, Thorsten; https://orcid.org/0000-0001-7890-9845, López-Guillermo, Armando, Martin-Subero, Jose I; https://orcid.org/0000-0001-8809-5195, Colomer, Dolors, Delgado, Julio; https://orcid.org/0000-0002-5157-4376, Campo, Elías; https://orcid.org/0000-0001-9850-9793, Nadeu, Ferran; https://orcid.org/0000-0003-2910-9440, Syrykh, Charlotte, Pons-Brun, Berta, Russiñol, Núria, Playa-Albinyana, Heribert; https://orcid.org/0000-0002-3447-3848, Baumann, Tycho Stephan, Duran-Ferrer, Martí; https://orcid.org/0000-0003-1666-5819, Kulis, Marta; https://orcid.org/0000-0001-8104-9620, Carbó-Meix, Anna, Mozas, Pablo; https://orcid.org/0000-0001-9528-4971, Alcoceba, Miguel, González, Marcos; https://orcid.org/0000-0001-6637-1072, Navarro-Bailón, Almudena; https://orcid.org/0000-0002-7972-5666, Colado, Enrique, Payer, Ángel, Aymerich, Marta, Terol, María José, Lu, Junyan; https://orcid.org/0000-0002-9211-0746, Knisbacher, Binyamin Asher; https://orcid.org/0000-0002-4962-9956, Hahn, Cynthia K; https://orcid.org/0000-0001-8284-7261, Ruiz-Gaspà, Sílvia, Enjuanes, Anna, Wu, Catherine J; https://orcid.org/0000-0002-3348-5054, Getz, Gad, Zenz, Thorsten; https://orcid.org/0000-0001-7890-9845, López-Guillermo, Armando, Martin-Subero, Jose I; https://orcid.org/0000-0001-8809-5195, Colomer, Dolors, Delgado, Julio; https://orcid.org/0000-0002-5157-4376, and Campo, Elías; https://orcid.org/0000-0001-9850-9793
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- 2023
6. Supplementary tables from Mutational Landscape and Tumor Burden Assessed by Cell-free DNA in Diffuse Large B-Cell Lymphoma in a Population-Based Study
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Rivas-Delgado, Alfredo, primary, Nadeu, Ferran, primary, Enjuanes, Anna, primary, Casanueva-Eliceiry, Sebastián, primary, Mozas, Pablo, primary, Magnano, Laura, primary, Castrejón de Anta, Natalia, primary, Rovira, Jordina, primary, Dlouhy, Ivan, primary, Martín, Silvia, primary, Osuna, Miguel, primary, Rodríguez, Sonia, primary, Simó, Marc, primary, Pinyol, Magda, primary, Baumann, Tycho, primary, Beà, Silvia, primary, Balagué, Olga, primary, Delgado, Julio, primary, Villamor, Neus, primary, Setoain, Xavier, primary, Campo, Elías, primary, Giné, Eva, primary, and López-Guillermo, Armando, primary
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- 2023
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7. Supplementary Data from A Cyclin D1–Dependent Transcriptional Program Predicts Clinical Outcome in Mantle Cell Lymphoma
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Demajo, Santiago, primary, Albero, Robert, primary, Clot, Guillem, primary, Castellano, Giancarlo, primary, Navarro, Alba, primary, Capdevila, Cristina, primary, Enjuanes, Anna, primary, Nadeu, Ferran, primary, Giné, Eva, primary, Pinyol, Magda, primary, Jaffe, Elaine S., primary, Ott, German, primary, Staudt, Louis M., primary, Rosenwald, Andreas, primary, Scott, David W., primary, Rimsza, Lisa M., primary, López-Guillermo, Armando, primary, Beà, Sílvia, primary, Campo, Elias, primary, and Jares, Pedro, primary
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- 2023
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8. Supplementary Table 1 from Genetic Variants in Apoptosis and Immunoregulation-Related Genes Are Associated with Risk of Chronic Lymphocytic Leukemia
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Enjuanes, Anna, primary, Benavente, Yolanda, primary, Bosch, Francesc, primary, Martín-Guerrero, Idoia, primary, Colomer, Dolors, primary, Pérez-Álvarez, Susana, primary, Reina, Oscar, primary, Ardanaz, Maria T., primary, Jares, Pedro, primary, García-Orad, Africa, primary, Pujana, Miguel A., primary, Montserrat, Emili, primary, de Sanjosé, Silvia, primary, and Campo, Elias, primary
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- 2023
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9. Data from Genetic Variants in Apoptosis and Immunoregulation-Related Genes Are Associated with Risk of Chronic Lymphocytic Leukemia
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Enjuanes, Anna, primary, Benavente, Yolanda, primary, Bosch, Francesc, primary, Martín-Guerrero, Idoia, primary, Colomer, Dolors, primary, Pérez-Álvarez, Susana, primary, Reina, Oscar, primary, Ardanaz, Maria T., primary, Jares, Pedro, primary, García-Orad, Africa, primary, Pujana, Miguel A., primary, Montserrat, Emili, primary, de Sanjosé, Silvia, primary, and Campo, Elias, primary
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- 2023
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10. Supplementary Figure 1 from Genetic Variants in Apoptosis and Immunoregulation-Related Genes Are Associated with Risk of Chronic Lymphocytic Leukemia
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Enjuanes, Anna, primary, Benavente, Yolanda, primary, Bosch, Francesc, primary, Martín-Guerrero, Idoia, primary, Colomer, Dolors, primary, Pérez-Álvarez, Susana, primary, Reina, Oscar, primary, Ardanaz, Maria T., primary, Jares, Pedro, primary, García-Orad, Africa, primary, Pujana, Miguel A., primary, Montserrat, Emili, primary, de Sanjosé, Silvia, primary, and Campo, Elias, primary
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- 2023
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11. Supplementary Table 2 from Genetic Variants in Apoptosis and Immunoregulation-Related Genes Are Associated with Risk of Chronic Lymphocytic Leukemia
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Enjuanes, Anna, primary, Benavente, Yolanda, primary, Bosch, Francesc, primary, Martín-Guerrero, Idoia, primary, Colomer, Dolors, primary, Pérez-Álvarez, Susana, primary, Reina, Oscar, primary, Ardanaz, Maria T., primary, Jares, Pedro, primary, García-Orad, Africa, primary, Pujana, Miguel A., primary, Montserrat, Emili, primary, de Sanjosé, Silvia, primary, and Campo, Elias, primary
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- 2023
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12. Supplementary Figure Legend from Genetic Variants in Apoptosis and Immunoregulation-Related Genes Are Associated with Risk of Chronic Lymphocytic Leukemia
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Enjuanes, Anna, primary, Benavente, Yolanda, primary, Bosch, Francesc, primary, Martín-Guerrero, Idoia, primary, Colomer, Dolors, primary, Pérez-Álvarez, Susana, primary, Reina, Oscar, primary, Ardanaz, Maria T., primary, Jares, Pedro, primary, García-Orad, Africa, primary, Pujana, Miguel A., primary, Montserrat, Emili, primary, de Sanjosé, Silvia, primary, and Campo, Elias, primary
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- 2023
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13. MYC and TP53 Alterations but Not MAPK Pathway Mutations Are Common Oncogenic Mechanisms in Follicular Dendritic Cell Sarcomas
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Frigola, Gerard, primary, Bühler, Marco, additional, Marginet, Marta, additional, Enjuanes, Anna, additional, Nadeu, Ferran, additional, Papaleo, Natalia, additional, Salido, Marta, additional, Haralambieva, Eugenia, additional, Alamo, José, additional, Garcia-Bragado, Federico, additional, Álvarez, Ramiro, additional, Ramos, Rafael, additional, Aldecoa, Iban, additional, Campo, Elías, additional, Colomo, Lluis, additional, and Balagué, Olga, additional
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- 2022
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14. Intravascular Large B-Cell Lymphoma Genomic Profile Is Characterized by Alterations in Genes Regulating NF-κB and Immune Checkpoints
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Gonzalez-Farre, Blanca, primary, Ramis-Zaldivar, Joan E., additional, Castrejón de Anta, Natalia, additional, Rivas-Delgado, Alfredo, additional, Nadeu, Ferran, additional, Salmeron-Villalobos, Julia, additional, Enjuanes, Anna, additional, Karube, Kennosuke, additional, Balagué, Olga, additional, Cobo, Francesc, additional, Kelleher, Nicholas, additional, Victoria, Ingrid, additional, Veloza, Luis, additional, Teixido, Cristina, additional, Giné, Eva, additional, Lopez-Guerra, Mónica, additional, Quintanilla-Martinez, Leticia, additional, Lopez-Guillermo, Armando, additional, Salaverria, Itziar, additional, and Campo, Elias, additional
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- 2022
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15. NR1H3 (LXRα) is associated with pro‐inflammatory macrophages, predicts survival and suggests potential therapeutic rationales in diffuse large b‐cell lymphoma
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Vegliante, Maria Carmela, primary, Mazzara, Saveria, additional, Zaccaria, Gian Maria, additional, De Summa, Simona, additional, Esposito, Flavia, additional, Melle, Federica, additional, Motta, Giovanna, additional, Sapienza, Maria Rosaria, additional, Opinto, Giuseppina, additional, Volpe, Giacomo, additional, Bucci, Antonella, additional, Gargano, Grazia, additional, Enjuanes, Anna, additional, Tabanelli, Valentina, additional, Fiori, Stefano, additional, Minoia, Carla, additional, Clemente, Felice, additional, Negri, Antonio, additional, Gulino, Alessandro, additional, Morello, Gaia, additional, Scattone, Anna, additional, Zito, Alfredo F., additional, Tommasi, Stefania, additional, Agostinelli, Claudio, additional, Vitolo, Umberto, additional, Chiappella, Annalisa, additional, Barbui, Anna Maria, additional, Derenzini, Enrico, additional, Zinzani, Pier Luigi, additional, Casadei, Beatrice, additional, Rivas‐Delgado, Alfredo, additional, López‐Guillermo, Armando, additional, Campo, Elias, additional, Moschetta, Antonio, additional, Guarini, Attilio, additional, Pileri, Stefano A., additional, and Ciavarella, Sabino, additional
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- 2022
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16. Cell-Free DNA for Genomic Analysis in Primary Mediastinal Large B-Cell Lymphoma
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Rivas-Delgado, Alfredo, primary, Nadeu, Ferran, additional, Andrade-Campos, Marcio, additional, López, Cristina, additional, Enjuanes, Anna, additional, Mozas, Pablo, additional, Frigola, Gerard, additional, Colomo, Luis, additional, Sanchez-Gonzalez, Blanca, additional, Villamor, Neus, additional, Beà, Sílvia, additional, Campo, Elías, additional, Salar, Antonio, additional, Giné, Eva, additional, López-Guillermo, Armando, additional, and Bellosillo, Beatriz, additional
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- 2022
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17. Abstract 3795: Early seeding of Richter transformation in chronic lymphocytic leukemia
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Nadeu, Ferran, primary, Royo, Romina, additional, Massoni-Badosa, Ramon, additional, Garcia-Torre, Beatriz, additional, Duran-Ferrer, Martí, additional, Dawson, Kevin J., additional, Kulis, Marta, additional, Diaz-Navarro, Ander, additional, Villamor, Neus, additional, Melero, Juan L., additional, Chapaprieta, Vicente, additional, Dueso-Barroso, Ana, additional, Delgado, Julio, additional, Moia, Riccardo, additional, Ruiz-Gil, Sara, additional, Marchese, Domenica, additional, Verdaguer-Dot, Núria, additional, Romo, Mónica, additional, Rozman, Maria, additional, Frigola, Gerard, additional, Rivas-Delgado, Alfredo, additional, Baumann, Tycho, additional, Alcoceba, Miguel, additional, González, Marcos, additional, Climent, Fina, additional, Abrisqueta, Pau, additional, Castellví, Josep, additional, Bosch, Francesc, additional, Aymerich, Marta, additional, Enjuanes, Anna, additional, Ruiz-Gaspà, Sílvia, additional, López-Guillermo, Armando, additional, Jares, Pedro, additional, Beà, Sílvia, additional, Colomer, Dolors, additional, López-Bigas, Núria, additional, LlGelpí, Josep, additional, Torrents, David, additional, Campbell, Peter J., additional, Gut, Ivo, additional, Garcia-Roves, Pablo M., additional, Rossi, Davide, additional, Gaidano, Gianluca, additional, Puente, Xose S., additional, Heyn, Holger, additional, Maura, Francesco, additional, Martín-Subero, José I., additional, and Campo, Elías, additional
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- 2022
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18. Supplementary files of the article 'Detection of early seeding of Richter transformation in chronic lymphocytic leukemia' [Dataset]
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Nadeu, Ferran, Royo, Romina, Massoni-Badosa, Ramon, Playa-Albinyana, Heribert, Garcia-Torre, Beatriz, Duran-Ferrer, Martí, Dawson, Kevin J., Kulis, Marta, Diaz-Navarro, Ander, Villamor, Neus, Melero, Juan L., Chapaprieta, Vicente, Dueso-Barroso, Ana, Delgado, Julio, Moia, Riccardo, Ruiz-Gil, Sara, Marchese, Domenica, Giró, Ariadna, Verdaguer-Dot, Núria, Romo, Mónica, Clot, Guillem, Rozman, María, Frigola, Gerard, Rivas-Delgado, Alfredo, Baumann, Tycho, Alcoceba, Miguel, González, Marcos, Climent, Fina, Abrisqueta, Pau, Castellví, Josep, Bosch, Francesc, Aymerich, Marta, Enjuanes, Anna, Ruiz-Gaspà, Sílvia, López-Guillermo, Armando, Jares, Pedro, Beà, Silvia, Capella-Gutiérrez, Salvador, Gelpí, Josep Lluis, López-Bigas, Nuria, Torrents, David, Campbell, Peter J., Gut, Ivo, Rossi, Davide, Gaidano, Gianluca, Puente, Xose S., García-Roves, Pablo M., Colomer, Dolors, Heyn, Holger, Maura, Francesco, Martín-Subero, José Ignacio, Campo, Elías, Nadeu, Ferran, Royo, Romina, Massoni-Badosa, Ramon, Playa-Albinyana, Heribert, Garcia-Torre, Beatriz, Duran-Ferrer, Martí, Dawson, Kevin J., Kulis, Marta, Diaz-Navarro, Ander, Villamor, Neus, Melero, Juan L., Chapaprieta, Vicente, Dueso-Barroso, Ana, Delgado, Julio, Moia, Riccardo, Ruiz-Gil, Sara, Marchese, Domenica, Giró, Ariadna, Verdaguer-Dot, Núria, Romo, Mónica, Clot, Guillem, Rozman, María, Frigola, Gerard, Rivas-Delgado, Alfredo, Baumann, Tycho, Alcoceba, Miguel, González, Marcos, Climent, Fina, Abrisqueta, Pau, Castellví, Josep, Bosch, Francesc, Aymerich, Marta, Enjuanes, Anna, Ruiz-Gaspà, Sílvia, López-Guillermo, Armando, Jares, Pedro, Beà, Silvia, Capella-Gutiérrez, Salvador, Gelpí, Josep Lluis, López-Bigas, Nuria, Torrents, David, Campbell, Peter J., Gut, Ivo, Rossi, Davide, Gaidano, Gianluca, Puente, Xose S., García-Roves, Pablo M., Colomer, Dolors, Heyn, Holger, Maura, Francesco, Martín-Subero, José Ignacio, and Campo, Elías
- Published
- 2022
19. Detection of early seeding of Richter transformation in chronic lymphocytic leukemia
- Author
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Fundación la Caixa, European Research Council, European Commission, Instituto de Salud Carlos III, Ministerio de Ciencia, Innovación y Universidades (España), Agencia Estatal de Investigación (España), American Association for Cancer Research, European Hematology Association, Lady Tata Memorial Trust, Generalitat de Catalunya, Asociación Española Contra el Cáncer, Fundació La Marató de TV3, Centro de Investigación Biomédica en Red Cáncer (España), Fundación Científica Asociación Española Contra el Cáncer, Associazione Italiana per la Ricerca sul Cancro, Eusko Jaurlaritza, Nadeu, Ferran, Royo, Romina, Massoni-Badosa, Ramon, Playa-Albinyana, Heribert, Garcia-Torre, Beatriz, Duran-Ferrer, Martí, Dawson, Kevin J., Kulis, Marta, Diaz-Navarro, Ander, Villamor, Neus, Melero, Juan L., Chapaprieta, Vicente, Dueso-Barroso, Ana, Delgado, Julio, Moia, Riccardo, Ruiz-Gil, Sara, Marchese, Domenica, Giró, Ariadna, Verdaguer-Dot, Núria, Romo, Mónica, Clot, Guillem, Rozman, María, Frigola, Gerard, Rivas-Delgado, Alfredo, Baumann, Tycho, Alcoceba, Miguel, González, Marcos, Climent, Fina, Abrisqueta, Pau, Castellví, Josep, Bosch, Francesc, Aymerich, Marta, Enjuanes, Anna, Ruiz-Gaspà, Sílvia, López-Guillermo, Armando, Jares, Pedro, Beà, Silvia, Capella-Gutiérrez, Salvador, Gelpí, Josep Lluis, López-Bigas, Nuria, Torrents, David, Campbell, Peter J., Gut, Ivo, Rossi, Davide, Gaidano, Gianluca, Puente, Xose S., García-Roves, Pablo M., Colomer, Dolors, Heyn, Holger, Maura, Francesco, Martín-Subero, José Ignacio, Campo, Elías, Fundación la Caixa, European Research Council, European Commission, Instituto de Salud Carlos III, Ministerio de Ciencia, Innovación y Universidades (España), Agencia Estatal de Investigación (España), American Association for Cancer Research, European Hematology Association, Lady Tata Memorial Trust, Generalitat de Catalunya, Asociación Española Contra el Cáncer, Fundació La Marató de TV3, Centro de Investigación Biomédica en Red Cáncer (España), Fundación Científica Asociación Española Contra el Cáncer, Associazione Italiana per la Ricerca sul Cancro, Eusko Jaurlaritza, Nadeu, Ferran, Royo, Romina, Massoni-Badosa, Ramon, Playa-Albinyana, Heribert, Garcia-Torre, Beatriz, Duran-Ferrer, Martí, Dawson, Kevin J., Kulis, Marta, Diaz-Navarro, Ander, Villamor, Neus, Melero, Juan L., Chapaprieta, Vicente, Dueso-Barroso, Ana, Delgado, Julio, Moia, Riccardo, Ruiz-Gil, Sara, Marchese, Domenica, Giró, Ariadna, Verdaguer-Dot, Núria, Romo, Mónica, Clot, Guillem, Rozman, María, Frigola, Gerard, Rivas-Delgado, Alfredo, Baumann, Tycho, Alcoceba, Miguel, González, Marcos, Climent, Fina, Abrisqueta, Pau, Castellví, Josep, Bosch, Francesc, Aymerich, Marta, Enjuanes, Anna, Ruiz-Gaspà, Sílvia, López-Guillermo, Armando, Jares, Pedro, Beà, Silvia, Capella-Gutiérrez, Salvador, Gelpí, Josep Lluis, López-Bigas, Nuria, Torrents, David, Campbell, Peter J., Gut, Ivo, Rossi, Davide, Gaidano, Gianluca, Puente, Xose S., García-Roves, Pablo M., Colomer, Dolors, Heyn, Holger, Maura, Francesco, Martín-Subero, José Ignacio, and Campo, Elías
- Abstract
Richter transformation (RT) is a paradigmatic evolution of chronic lymphocytic leukemia (CLL) into a very aggressive large B cell lymphoma conferring a dismal prognosis. The mechanisms driving RT remain largely unknown. We characterized the whole genome, epigenome and transcriptome, combined with single-cell DNA/RNA-sequencing analyses and functional experiments, of 19 cases of CLL developing RT. Studying 54 longitudinal samples covering up to 19 years of disease course, we uncovered minute subclones carrying genomic, immunogenetic and transcriptomic features of RT cells already at CLL diagnosis, which were dormant for up to 19 years before transformation. We also identified new driver alterations, discovered a new mutational signature (SBS-RT), recognized an oxidative phosphorylation (OXPHOS)high–B cell receptor (BCR)low-signaling transcriptional axis in RT and showed that OXPHOS inhibition reduces the proliferation of RT cells. These findings demonstrate the early seeding of subclones driving advanced stages of cancer evolution and uncover potential therapeutic targets for RT.
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- 2022
20. Intravascular Large B-Cell Lymphoma Genomic Profile Is Characterized by Alterations in Genes Regulating NF-κB and Immune Checkpoints.
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Gonzalez-Farre, Blanca, Ramis-Zaldivar, Joan E., Castrejón de Anta, Natalia, Rivas-Delgado, Alfredo, Nadeu, Ferran, Salmeron-Villalobos, Julia, Enjuanes, Anna, Karube, Kennosuke, Balagué, Olga, Cobo, Francesc, Kelleher, Nicholas, Victoria, Ingrid, Veloza, Luis, Teixido, Cristina, Giné, Eva, Lopez-Guerra, Mónica, Quintanilla-Martinez, Leticia, Lopez-Guillermo, Armando, Salaverria, Itziar, and Campo, Elias
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- 2023
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21. Revised International Prognostic Index and genetic alterations are associated with early failure to R‐CHOP in patients with diffuse large B‐cell lymphoma.
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Dlouhy, Ivan, Karube, Kennosuke, Enjuanes, Anna, Salaverria, Itziar, Nadeu, Ferran, Ramis‐Zaldivar, Juan Enric, Valero, Juan G., Rivas‐Delgado, Alfredo, Magnano, Laura, Martin‐García, David, Pérez‐Galán, Patricia, Clot, Guillem, Rovira, Jordina, Jares, Pedro, Balagué, Olga, Giné, Eva, Mozas, Pablo, Briones, Javier, Sancho, Juan‐Manuel, and Salar, Antonio
- Subjects
ANTINEOPLASTIC combined chemotherapy protocols ,CELL cycle regulation ,EXTRACELLULAR matrix ,GENE expression profiling ,DIFFUSE large B-cell lymphomas ,TUMOR microenvironment - Abstract
Summary: Relapsed or refractory diffuse large B‐cell lymphoma (DLBCL) cases have a poor outcome. Here we analysed clinico‐biological features in 373 DLBCL patients homogeneously treated with rituximab, cyclophosphamide, doxorubicin, vincristine and prednisolone (R‐CHOP), in order to identify variables associated with early failure to treatment (EF), defined as primary refractoriness or relapse within 12 months from diagnosis. In addition to clinical features, mutational status of 106 genes was studied by targeted next‐generation sequencing in 111 cases, copy number alterations in 87, and gene expression profile (GEP) in 39. Ninety‐seven cases (26%) were identified as EF and showed significantly shorter overall survival (OS). Patients with B symptoms, advanced stage, high levels of serum lactate dehydrogenase (LDH) or β2‐microglobulin, low lymphocyte/monocyte ratio and higher Revised International Prognostic Index (R‐IPI) scores, as well as those with BCL2 rearrangements more frequently showed EF, with R‐IPI being the most important in logistic regression. Mutations in NOTCH2, gains in 5p15·33 (TERT), 12q13 (CDK2), 12q14·1 (CDK4) and 12q15 (MDM2) showed predictive importance for EF independently from R‐IPI. GEP studies showed that EF cases were significantly enriched in sets related to cell cycle regulation and inflammatory response, while cases in response showed over‐representation of gene sets related to extra‐cellular matrix and tumour microenvironment. [ABSTRACT FROM AUTHOR]
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- 2022
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22. IGLV3-21R110mutation has prognostic value in patients with treatment-naive chronic lymphocytic leukemia
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Syrykh, Charlotte, Pons-Brun, Berta, Russiñol, Núria, Playa-Albinyana, Heribert, Baumann, Tycho, Duran-Ferrer, Martí, Kulis, Marta, Carbó-Meix, Anna, Mozas, Pablo, Alcoceba, Miguel, González, Marcos, Navarro-Bailón, Almudena, Colado, Enrique, Payer, Ángel R., Aymerich, Marta, Terol, María J., Lu, Junyan, Knisbacher, Binyamin A., Hahn, Cynthia K., Ruiz-Gaspà, Sílvia, Enjuanes, Anna, Wu, Catherine J., Getz, Gad, Zenz, Thorsten, López-Guillermo, Armando, Martín-Subero, José I., Colomer, Dolors, Delgado, Julio, Campo, Elías, and Nadeu, Ferran
- Published
- 2023
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23. MYC and TP53 Alterations but Not MAPK Pathway Mutations Are Common Oncogenic Mechanisms in Follicular Dendritic Cell Sarcomas.
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Frigola, Gerard, Bühler, Marco, Marginet, Marta, Enjuanes, Anna, Nadeu, Ferran, Papaleo, Natalia, Salido, Marta, Haralambieva, Eugenia, Alamo, José, Garcia-Bragado, Federico, Alvarez, Ramiró, Ramos, Rafael, Aldecoa, Iban, Campo, Elías, Colomo, Lluis, and Balagué, Olga
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DENDRITIC cells , *GRANULOMA , *GENETIC mutation , *CARCINOGENESIS , *ONCOGENES , *IMMUNOHISTOCHEMISTRY , *CELLULAR signal transduction , *GENE expression , *TUMOR suppressor genes , *MITOGEN-activated protein kinases , *SARCOMA , *EPSTEIN-Barr virus diseases - Abstract
Context.--Despite their stromal origin, follicular dendritic cells (FDCs) share many functions with hematopoietic system cells. FDC neoplasms are currently classified by the World Health Organization along with those of a histiocytic nature. However, the molecular alterations driving oncogenesis in FDC sarcomas (FDCSs) are beginning to be unveiled and do not seem to concur with those described in histiocytic neoplasms, namely MAPK pathway activation. Objective.--To identify molecular alterations driving tumorigenesis in FDCS. Design.--We investigated the role of MYC and TP53 in FDC-derived tumor oncogenesis and assessed comprehensively the status of the MAPK pathway in 16 FDCSs, 6 inflammatory pseudotumor (IPT)--like FDCSs, and 8 IPTs. Results.--MYC structural alterations (both amplifications and rearrangements) were identified in 5 of 14 FDCSs (35.7%), all associated with MYC overexpression. TP53 mutations were identified in 4 of 14 FDCSs (28.6%), all of which displayed intense and diffuse p53 expression. None of these alterations were identified in any IPT-like FDCSs or in IPT cases. No MAPK pathway gene alterations were identified in any of the cases studied. Conclusions.--The presence of MYC and TP53 alterations and the lack of association with Epstein-Barr virus segregate classical FDCS from IPT-like FDCS, pointing at different oncogenic mechanisms in both entities. Our results suggest a possible oncogenic role of MYC and TP53 alterations in FDCS. The absence of MAPK pathway alterations confirms the lack of a significant role of this pathway in the oncogenesis of FDC-derived neoplasms. [ABSTRACT FROM AUTHOR]
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- 2023
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24. Testicular large B-cell lymphoma is genetically similar to PCNSL and distinct from nodal DLBCL.
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Rivas-Delgado A, López C, Clot G, Nadeu F, Grau M, Frigola G, Bosch-Schips J, Radke J, Ishaque N, Alcoceba M, Tapia G, Luizaga L, Barcena C, Kelleher N, Villamor N, Baumann T, Muntañola A, Sancho-Cia JM, García-Sancho AM, Gonzalez-Barca E, Matutes E, Brito JA, Karube K, Salaverria I, Enjuanes A, Wiemann S, Heppner FL, Siebert R, Climent F, Campo E, Giné E, López-Guillermo A, and Beà S
- Abstract
Testicular large B-cell lymphoma (TLBCL) is an infrequent and aggressive lymphoma arising in an immune-privileged site and has recently been recognized as a distinct entity from diffuse large B-cell lymphoma (DLBCL). We describe the genetic features of TLBCL and compare them with published series of nodal DLBCL and primary large B-cell lymphomas of the CNS (PCNSL). We collected 61 patients with TLBCL. We performed targeted next-generation sequencing, copy number arrays, and fluorescent in situ hybridization to assess chromosomal rearrangements in 40 cases with available material. Seventy percent of the cases showed localized stages. BCL6 rearrangements were detected in 36% of cases, and no concomitant BCL2 and MYC rearrangements were found. TLBCL had fewer copy number alterations ( p < 0.04) but more somatic variants ( p < 0.02) than nodal DLBCL and had more frequent 18q21.32-q23 ( BCL2 ) gains and 6q and 9p21.3 ( CDKN2A/B ) deletions. PIM1 , MYD88
L265P , CD79B , TBL1XR1 , MEF2B , CIITA , EP300, and ETV6 mutations were more frequent in TLBCL, and BCL10 mutations in nodal DLBCL. There were no major genetic differences between TLBCL and PCNSL. Localized or disseminated TLBCL displayed similar genomic profiles. Using LymphGen, the majority of cases were classified as MCD. However, we observed a subgroup of patients classified as BN2, both in localized and disseminated TLBCL, suggesting a degree of genetic heterogeneity in the TLBCL genetic profile. TLBCL has a distinctive genetic profile similar to PCNSL, supporting its recognition as a separate entity from DLBCL and might provide information to devise targeted therapeutic approaches., Competing Interests: Ferran Nadeu has received honoraria from Janssen, AbbVie, AstraZeneca, and SOPHiA GENETICS for speaking at educational activities; has received research support from Gilead; and has licensed the use of the protected IgCaller algorithm to Diagnóstica Longwood. Tycho Baumann has received consulting fees or honoraria from Janssen, Roche, Novartis, Merck, Gilead/Kite, Incyte, Lilly, Abbvie, AstraZeneca, and BeiGene. Alejandro Martin García‐Sancho has received consulting fees or honoraria from Janssen, Roche, BMS/Celgene, Kyowa Kirin, Clinigen, EUSAPharma, Novartis, Gilead/Kite, Incyte, Lilly, Takeda, ADC Therapeutics America, Miltenyi, Ideogen, Abbvie, and BeiGene. Elías Campo has been a consultant for GenMab, and Takeda; has received research support from AstraZeneca; received honoraria from Janssen, EUSPharma, Takeda, and Roche for speaking at educational activities; and is an inventor on a Lymphoma and Leukemia Molecular Profiling Project patent “Method for subtyping lymphoma subtypes by means of expression profiling” (PCT/US2014/64161) and a bioinformatic tool (IgCaller) licensed to Diagnostic Longwood. Eva Giné has received honoraria or consulting fees from Gilead, Kite Pharma, Janssen, Genmab, Miltenyi, and Lilly; has received research support from Janssen and travel expenses from Gilead and Kite Pharma. Armando López Guillermo served on the advisory board of Roche, Celgene, Novartis, and Gilead/Kite, received grants from Celgene and Gilead/Kite, and travel expenses from Kite/Gilead. The remaining authors declare no competing interests., (© 2024 The Author(s). HemaSphere published by John Wiley & Sons Ltd on behalf of European Hematology Association.)- Published
- 2024
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