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1. Distinct molecular profile of IRF4-rearranged large B-cell lymphoma

Author

Ramis-Zaldivar, Joan Enric, Gonzalez-Farré, Blanca, Balagué, Olga, Celis, Verónica, Nadeu, Ferran, Salmerón-Villalobos, Julia, Andrés, Mara, Martin-Guerrero, Idoia, Garrido-Pontnou, Marta, Gaafar, Ayman, Suñol, Mariona, Bárcena, Carmen, Garcia-Bragado, Federico, Andión, Maitane, Azorín, Daniel, Astigarraga, Itziar, Sagaseta de Ilurdoz, Maria, Sábado, Constantino, Gallego, Soledad, Verdú-Amorós, Jaime, Fernandez-Delgado, Rafael, Perez, Vanesa, Tapia, Gustavo, Mozos, Anna, Torrent, Montserrat, Solano-Páez, Palma, Rivas-Delgado, Alfredo, Dlouhy, Ivan, Clot, Guillem, Enjuanes, Anna, López-Guillermo, Armando, Galera, Pallavi, Oberley, Matthew J., Maguire, Alanna, Ramsower, Colleen, Rimsza, Lisa M., Quintanilla-Martinez, Leticia, Jaffe, Elaine S., Campo, Elías, and Salaverria, Itziar

Published
2020
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2. Clinical impact of clonal and subclonal TP53, SF3B1, BIRC3, NOTCH1, and ATM mutations in chronic lymphocytic leukemia

Author

Nadeu, Ferran, Delgado, Julio, Royo, Cristina, Baumann, Tycho, Stankovic, Tatjana, Pinyol, Magda, Jares, Pedro, Navarro, Alba, Martín-García, David, Beà, Sílvia, Salaverria, Itziar, Oldreive, Ceri, Aymerich, Marta, Suárez-Cisneros, Helena, Rozman, Maria, Villamor, Neus, Colomer, Dolors, López-Guillermo, Armando, González, Marcos, Alcoceba, Miguel, Terol, Maria José, Colado, Enrique, Puente, Xose S., López-Otín, Carlos, Enjuanes, Anna, and Campo, Elías

Published
2016
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3. SOX11 regulates PAX5 expression and blocks terminal B-cell differentiation in aggressive mantle cell lymphoma

Author

Vegliante, Maria Carmela, Palomero, Jara, Pérez-Galán, Patricia, Roué, Gaël, Castellano, Giancarlo, Navarro, Alba, Clot, Guillem, Moros, Alexandra, Suárez-Cisneros, Helena, Beà, Sílvia, Hernández, Luis, Enjuanes, Anna, Jares, Pedro, Villamor, Neus, Colomer, Dolors, Martín-Subero, José Ignacio, Campo, Elias, and Amador, Virginia

Published
2013
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4. Mutational Profile and Copy Number Alterations of Follicular Lymphoma Patients with Different Clinical Behavior

Author

Mozas, Pablo, primary, López, Cristina, additional, Grau, Marta, additional, Valle, Sara, additional, Castellano, Giancarlo, additional, Navarro, Alba, additional, Nadeu, Ferran, additional, González-Farré, Blanca, additional, Rivas-Delgado, Alfredo, additional, Rivero, Andrea, additional, Correa, Juan Gonzalo, additional, Castillo, Carlos, additional, Olga, Balagué, additional, Giné, Eva, additional, Delgado, Julio, additional, Villamor, Neus, additional, Pinyol, Magda, additional, Pérez-Galán, Patricia, additional, Magnano, Laura, additional, Campo, Elías, additional, Enjuanes, Anna, additional, Beà, Sílvia, additional, and Armando, López-Guillermo, additional

Published
2020
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5. The U1 Spliceosomal RNA: A Novel Non-Coding Hotspot Driver Mutation Independently Associated with Clinical Outcome in Chronic Lymphocytic Leukemia

Author

Nadeu, Ferran, primary, Shuai, Shimin, primary, Diaz-Navarro, Ander, primary, López, Irene, primary, Martín, Silvia, primary, Suzuki, Hiromichi, primary, Royo, Romina, primary, Clot, Guillem, primary, Delgado, Julio, primary, Baumann, Tycho, primary, Lu, Junyan, primary, Navarro, Alba, primary, Kulis, Marta, primary, Kumar, Sachin A, primary, Gutierrez-Fernandez, Ana, primary, Alcoceba, Miguel, primary, González, Marcos, primary, Colado, Enrique, primary, Ramirez Payer, Angel, primary, Capdevila, Cristina, primary, Osuna, Miguel, primary, Aymerich, Marta, primary, Mares, Rosó, primary, Lopez-Guerra, Monica, primary, Magnano, Laura, primary, Mozas, Pablo, primary, Rivas-Delgado, Alfredo, primary, Terol, Maria Jose, primary, Enjuanes, Anna, primary, Huber, Wolfgang, primary, Lopez-Guillermo, Armando, primary, Beà, Sílvia, primary, Martin-Subero, José I., primary, Zenz, Thorsten, primary, Taylor, Michael D, primary, Colomer, Dolors, primary, Puente, Xose S, primary, Stein, Lincoln D, primary, and Campo, Elias, primary

Published
2019
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6. Mutational Landscape, Copy Number Alterations and Tumor Burden Assessed By Cell-Free DNA in Diffuse Large B-Cell Lymphoma

Author

Rivas-Delgado, Alfredo, primary, Nadeu, Ferran, additional, Enjuanes, Anna, additional, Casanueva, Sebastián, additional, Magnano, Laura, additional, Castrejón de Anta, Natalia, additional, Rovira, Jordina, additional, Dlouhy, Ivan, additional, Mozas, Pablo, additional, Martín, Silvia, additional, Osuna, Miguel, additional, Baumann, Tycho, additional, Delgado, Julio, additional, Olga, Balagué, additional, Beà, Sílvia, additional, Villamor, Neus, additional, Setoain, Xavier, additional, Campo, Elías, additional, Gine, Eva, additional, and Lopez-Guillermo, Armando, additional

Published
2019
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7. Large B-Cell Lymphomas in Pediatric and Young Adults Display Clinically Relevant Molecular Features Distinguishable from Adult Counterparts

Author

Ramis-Zaldivar, Joan Enric, primary, Gonzalez-Farre, Blanca, additional, Olga, Balagué, additional, Celis, Verónica, additional, Nadeu, Ferran, additional, Andrés, Mara, additional, Martin-Guerrero, Idoia, additional, Garrido, Marta, additional, Gaafar, Ayman, additional, Suñol, Mariona, additional, Bárcena, Carmen, additional, Garcia-Bragado, Federico, additional, Andión, Maitane, additional, Azorín, Daniel, additional, Astigarraga, Itziar, additional, Sagaseta, Maria, additional, Sábado, Constantino, additional, Gallego, Soledad, additional, Verdú, Jaime, additional, Delgado, Raphael F, additional, Tapia, Gustavo, additional, Rivas-Delgado, Alfredo, additional, Dlouhy, Ivan, additional, Salmerón-Villalobos, Julia, additional, Clot, Guillem, additional, Enjuanes, Anna, additional, Lopez-Guillermo, Armando, additional, Galera, Pallavi, additional, Oberley, Matthew J., additional, Quintanilla-Martinez, Leticia, additional, Jaffe, Elaine S., additional, Campo, Elias, additional, and Salaverria, Itziar, additional

Published
2018
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8. Clinical Impact of the Quantitative Subclonal Architecture in Chronic Lymphocytic Leukemia

Author

Nadeu, Ferran, primary, Delgado, Julio, additional, Clot, Guillem, additional, Martín-García, David, additional, Baumann, Tycho, additional, Pinyol, Magda, additional, Jares, Pedro, additional, Beà, Sílvia, additional, Salaverria, Itziar, additional, Navarro, Alba, additional, Suárez-Cisneros, Helena, additional, Aymerich, Marta, additional, Rozman, Maria, additional, Villamor, Neus, additional, Colomer, Dolors, additional, González, Marcos, additional, Alcoceba, Miguel, additional, Terol, María José, additional, Colado, Enrique, additional, López-Guillermo, Armando, additional, Puente, Xose S, additional, Lopez-Otin, Carlos, additional, Enjuanes, Anna, additional, and Campo, Elias, additional

Published
2016
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9. Aberrant Expression of the SOX11 Oncogene in Mantle Cell Lymphoma Is Associated with Activation and De Novo 3D Looping of a Distant Enhancer Element

Author

Vilarrasa-Blasi, Roser, primary, Queirós, Ana C., additional, Beekman, Renée, additional, Russiñol, Nuria, additional, Castellano, Giancarlo, additional, Blanc, Julie, additional, Serra, François, additional, Beà, Sílvia, additional, Kulis, Marta, additional, Verdaguer-Dot, Núria, additional, Enjuanes, Anna, additional, Bergmann, Anke, additional, Salaverria, Itziar, additional, van de Werken, Harmen J.G., additional, Datta, Avik, additional, Flicek, Paul, additional, Martens, Joost H.A., additional, Stunnenberg, Hendrik G., additional, Gut, Marta, additional, Marti-Renom, Marc A., additional, Gut, Ivo G., additional, Siebert, Reiner, additional, Campo, Elias, additional, and Martin-Subero, José I., additional

Published
2016
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10. Integrating Genomic Alterations in Diffuse Large B-Cell Lymphoma Identifies New Relevant Pathways and Potential Therapeutic Targets

Author

Dlouhy, Ivan, primary, Karube, Kennosuke, additional, Enjuanes, Anna, additional, Martín-García, David, additional, Nadeu, Ferran, additional, Ordoñez, Gonzalo R, additional, Rovira, Jordina, additional, Royo, Cristina, additional, Navarro, Alba, additional, Gonzalez, Blanca, additional, Castellano, Giancarlo, additional, Rubio-Perez, Carlota, additional, Tamborero, David, additional, Briones, Javier, additional, Salar, Antonio, additional, Sancho, Juan-Manuel, additional, Mercadal, Santiago, additional, Gonzalez Barca, Eva, additional, Escoda, Lourdes, additional, Hiroaki, Miyoshi, additional, Ohshima, Koichi, additional, Kato, Koji, additional, Akashi, Koichi, additional, Mozos, Anna, additional, Colomo, Lluis, additional, Alcoceba, Miguel, additional, Valera, Alexandra, additional, Carrio, Anna, additional, Lopez-Bigas, Nuria, additional, Schmitz, Roland, additional, Staudt, Louis, additional, Jares, Pedro, additional, Salaverria, Itziar, additional, López-Guillermo, Armando, additional, and Campo, Elias, additional

Published
2016
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11. Clinical Impact of Clonal and Subclonal TP53, SF3B1, BIRC3, and ATM Mutations in Chronic Lymphocytic Leukemia

Author

Nadeu, Ferran, primary, Delgado, Julio, additional, Royo, Cristina, additional, Bauman, Tycho, additional, Stankovic, Tatjana, additional, Pinyol, Magda, additional, Jares, Pedro, additional, Navarro, Alba, additional, Martín-García, David, additional, Beà, Sílvia, additional, Salaverria, Itziar, additional, Oldreive, Ceri, additional, Aymerich, Marta, additional, Suárez-Cisneros, Helena, additional, Rozman, Maria, additional, Villamor, Neus, additional, Colomer, Dolors, additional, López-Guillermo, Armando, additional, González, Marcos, additional, Alcoceba, Miguel, additional, Terol, María José, additional, Colado, Enrique, additional, Puente, Xose S, additional, López-Otín, Carlos, additional, Enjuanes, Anna, additional, and Campo, Elías, additional

Published
2015
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12. Risk of Central Nervous System (CNS) Involvement in Patients with Mantle Cell Lymphoma (MCL): Analysis of Clinico-Biological Factors in a Series of 283 Cases

Author

Giné, Eva, primary, Beà, Sílvia, additional, Navarro, Alba, additional, Martínez-Cibrián, Nuria, additional, Salaverría, Itziar, additional, Martín-García, David, additional, Jares, Pedro, additional, Pinyol, Magda, additional, Royo, Cristina, additional, Clot, Guillem, additional, Aymerich, Marta, additional, Villamor, Neus, additional, Colomo, Lluis, additional, Martínez, Antonio, additional, Valera, Alexandra, additional, Rozman, María, additional, Enjuanes, Anna, additional, Forcada, Pilar, additional, Muntanola, Anna, additional, Hartmann, Elena, additional, Rosenwald, Andreas, additional, Ott, German, additional, González, Marcos, additional, Hernández-Rivas, Jesús M, additional, Klapper, Wolfram, additional, Siebert, Reiner, additional, Wiestner, Adrian, additional, Wilson, Wyndham H., additional, Calasanz, Maria José, additional, Magnano, Laura, additional, Rovira, Jordina, additional, Colomer, Dolors, additional, Campo, Elias, additional, and Lopez-Guillermo, Armando, additional

Published
2014
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13. Results of the “Evaluation of NGS in AML-Diagnostics (ELAN)” Study – an Inter-Laboratory Comparison Performed in 10 European Laboratories

Author

Thiede, Christian, primary, Bullinger, Lars, additional, Hernández-Rivas, Jesús M, additional, Heuser, Michael, additional, Preudhomme, Claude, additional, Best, Steven, additional, Colomer, Dolors, additional, Lo Coco, Francesco, additional, Martinelli, Giovanni, additional, Schuh, Anna, additional, Benito, Rocí­o, additional, Dolnik, Anna, additional, Enjuanes, Anna, additional, Geffroy, Sandrine, additional, Lavorgna, Serena, additional, Lea, Nicholas, additional, Mason, Joanne, additional, Ottaviani, Emanuela, additional, Otto, Anne, additional, Thol, Felicitas, additional, Bhuju, Sabin, additional, Döhner, Konstanze, additional, Eberlein, Christian, additional, Hamblin, Angela, additional, Nibourel, Olivier, additional, Ottone, Tiziana, additional, Laginestra, Maria Antonella, additional, Pratcorona, Marta, additional, del Rey, Mónica, additional, and Schlesinger, Felix, additional

Published
2014
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14. Clinical impact of clonal and subclonal TP53, SF3B1, BIRC3, NOTCH1, and ATMmutations in chronic lymphocytic leukemia

Author

Nadeu, Ferran, Delgado, Julio, Royo, Cristina, Baumann, Tycho, Stankovic, Tatjana, Pinyol, Magda, Jares, Pedro, Navarro, Alba, Martín-García, David, Beà, Sílvia, Salaverria, Itziar, Oldreive, Ceri, Aymerich, Marta, Suárez-Cisneros, Helena, Rozman, Maria, Villamor, Neus, Colomer, Dolors, López-Guillermo, Armando, González, Marcos, Alcoceba, Miguel, Terol, Maria José, Colado, Enrique, Puente, Xose S., López-Otín, Carlos, Enjuanes, Anna, and Campo, Elías

Abstract

Genomic studies have revealed the complex clonal heterogeneity of chronic lymphocytic leukemia (CLL). The acquisition and selection of genomic aberrations may be critical to understanding the progression of this disease. In this study, we have extensively characterized the mutational status of TP53, SF3B1, BIRC3, NOTCH1, and ATMin 406 untreated CLL cases by ultra-deep next-generation sequencing, which detected subclonal mutations down to 0.3% allele frequency. Clonal dynamics were examined in longitudinal samples of 48 CLL patients. We identified a high proportion of subclonal mutations, isolated or associated with clonal aberrations. TP53mutations were present in 10.6% of patients (6.4% clonal, 4.2% subclonal), ATMmutations in 11.1% (7.8% clonal, 1.3% subclonal, 2% germ line mutations considered pathogenic), SF3B1mutations in 12.6% (7.4% clonal, 5.2% subclonal), NOTCH1mutations in 21.8% (14.2% clonal, 7.6% subclonal), and BIRC3mutations in 4.2% (2% clonal, 2.2% subclonal). ATMmutations, clonal SF3B1, and both clonal and subclonal NOTCH1mutations predicted for shorter time to first treatment irrespective of the immunoglobulin heavy-chain variable-region gene (IGHV) mutational status. Clonal and subclonal TP53and clonal NOTCH1mutations predicted for shorter overall survival together with the IGHV mutational status. Clonal evolution in longitudinal samples mainly occurred in cases with mutations in the initial samples and was observed not only after chemotherapy but also in untreated patients. These findings suggest that the characterization of the subclonal architecture and its dynamics in the evolution of the disease may be relevant for the management of CLL patients.

Published
2016
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15. Aberrant Expression of the SOX11Oncogene in Mantle Cell Lymphoma Is Associated with Activation and De Novo3D Looping of a Distant Enhancer Element

Author

Vilarrasa-Blasi, Roser, Queirós, Ana C., Beekman, Renée, Russiñol, Nuria, Castellano, Giancarlo, Blanc, Julie, Serra, François, Beà, Sílvia, Kulis, Marta, Verdaguer-Dot, Núria, Enjuanes, Anna, Bergmann, Anke, Salaverria, Itziar, van de Werken, Harmen J.G., Datta, Avik, Flicek, Paul, Martens, Joost H.A., Stunnenberg, Hendrik G., Gut, Marta, Marti-Renom, Marc A., Gut, Ivo G., Siebert, Reiner, Campo, Elias, and Martin-Subero, José I.

Abstract

Introduction

Published
2016
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16. Clinical Impact of Clonal and Subclonal TP53, SF3B1, BIRC3, and ATMMutations in Chronic Lymphocytic Leukemia

Author

Nadeu, Ferran, Delgado, Julio, Royo, Cristina, Bauman, Tycho, Stankovic, Tatjana, Pinyol, Magda, Jares, Pedro, Navarro, Alba, Martín-García, David, Beà, Sílvia, Salaverria, Itziar, Oldreive, Ceri, Aymerich, Marta, Suárez-Cisneros, Helena, Rozman, Maria, Villamor, Neus, Colomer, Dolors, López-Guillermo, Armando, González, Marcos, Alcoceba, Miguel, Terol, María José, Colado, Enrique, Puente, Xose S, López-Otín, Carlos, Enjuanes, Anna, and Campo, Elías

Abstract

Genomic studies have provided a complete profile of somatic mutations in chronic lymphocytic leukemia (CLL). These comprehensive approaches have revealed a relatively large number of mutated genes, the adverse prognostic value of some of which has been demonstrated in a number of reports. Recent studies have shown the clinical relevance of TP53mutations at very low allele frequency. The presence and prognostic impact of minor mutated clones of other CLL driver genes and their clonal dynamics in the evolution of the disease is not well known. The goal of this study was to explore the presence of clonal and subclonal mutations of TP53, SF3B1, BIRC3,and ATMusing an ultra-deep next-generation sequencing (NGS) strategy, to define the evolution of these subclones in different time-points of the disease, and to determine their influence in the outcome of the patients.

Published
2015
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