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1. Unraveling the genetics of transformed splenic marginal zone lymphoma

Author

Grau, Marta, López, Cristina, Navarro, Alba, Frigola, Gerard, Nadeu, Ferran, Clot, Guillem, Bastidas-Mora, Gabriela, Alcoceba, Miguel, Baptista, Maria Joao, Blanes, Margarita, Colomer, Dolors, Costa, Dolors, Domingo-Domènech, Eva, Enjuanes, Anna, Escoda, Lourdes, Forcada, Pilar, Giné, Eva, Lopez-Guerra, Mónica, Ramón, Olga, Rivas-Delgado, Alfredo, Vicente Folch, Laura, Wotherspoon, Andrew, Climent, Fina, Campo, Elias, López-Guillermo, Armando, Matutes, Estella, and Beà, Sílvia

Published
2023
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2. Detection of early seeding of Richter transformation in chronic lymphocytic leukemia

Author

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

Published
2022
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3. PI3Kδ inhibition reshapes follicular lymphoma–immune microenvironment cross talk and unleashes the activity of venetoclax

Author

Serrat, Neus, Guerrero-Hernández, Martina, Matas-Céspedes, Alba, Yahiaoui, Anella, Valero, Juan G., Nadeu, Ferran, Clot, Guillem, Di Re, Miriam, Corbera-Bellalta, Marc, Magnano, Laura, Rivas-Delgado, Alfredo, Enjuanes, Anna, Beà, Silvia, Cid, Maria C., Campo, Elías, Montero, Joan, Hodson, Daniel J., López-Guillermo, Armando, Colomer, Dolors, Tannheimer, Stacey, and Pérez-Galán, Patricia

Published
2020
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4. 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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6. IgCaller for reconstructing immunoglobulin gene rearrangements and oncogenic translocations from whole-genome sequencing in lymphoid neoplasms

Author

Nadeu, Ferran, Mas-de-les-Valls, Rut, Navarro, Alba, Royo, Romina, Martín, Silvia, Villamor, Neus, Suárez-Cisneros, Helena, Mares, Rosó, Lu, Junyan, Enjuanes, Anna, Rivas-Delgado, Alfredo, Aymerich, Marta, Baumann, Tycho, Colomer, Dolors, Delgado, Julio, Morin, Ryan D., Zenz, Thorsten, Puente, Xose S., Campbell, Peter J., Beà, Sílvia, Maura, Francesco, and Campo, Elías

Published
2020
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7. Cyclin D1 overexpression induces global transcriptional downregulation in lymphoid neoplasms

Author

Albero, Robert, Enjuanes, Anna, Demajo, Santiago, Castellano, Giancarlo, Pinyol, Magda, Garcia, Noelia, Capdevila, Cristina, Clot, Guillem, Suarez-Cisneros, Helena, Shimada, Mariko, Karube, Kennosuke, Lopez-Guerra, Monica, Colomer, Dolors, Bea, Silvia, Martin-Subero, Jose Ignacio, Campo, Elias, and Jares, Pedro

Subjects
Cancer genetics -- Research, Cyclin D -- Physiological aspects -- Health aspects, Cancer research, Mantle cell lymphoma -- Genetic aspects, Transcription (Genetics) -- Health aspects, Health care industry
Abstract

Cyclin D1 is an oncogene frequently overexpressed in human cancers that has a dual function as cell cycle and transcriptional regulator, although the latter is widely unexplored. Here, we investigated the transcriptional role of cyclin D1 in lymphoid tumor cells with cyclin D1 oncogenic overexpression. Cyclin D1 showed widespread binding to the promoters of most actively transcribed genes, and the promoter occupancy positively correlated with the transcriptional output of targeted genes. Despite this association, the overexpression of cyclin D1 in lymphoid cells led to a global transcriptional downmodulation that was proportional to cyclin D1 levels. This cyclin D1-dependent global transcriptional downregulation was associated with a reduced nascent transcription and an accumulation of promoter-proximal paused RNA polymerase II (Pol II) that colocalized with cyclin D1. Concordantly, cyclin D1 overexpression promoted an increase in the Poll II pausing index. This transcriptional impairment seems to be mediated by the interaction of cyclin D1 with the transcription machinery. In addition, cyclin D1 overexpression sensitized cells to transcription inhibitors, revealing a synthetic lethality interaction that was also observed in primary mantle cell lymphoma cases. This finding of global transcriptional dysregulation expands the known functions of oncogenic cyclin D1 and suggests the therapeutic potential of targeting the transcriptional machinery in cyclin D1-overexpressing tumors., Introduction Cyclin D1 plays a central role in cell cycle regulation, and it is frequently upregulated in cancer by different genomic alterations, including amplifications in breast and respiratory tract tumors [...]

Published
2018
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8. The reference epigenome and regulatory chromatin landscape of chronic lymphocytic leukemia

Author

Beekman, Renée, Chapaprieta, Vicente, Russiñol, Núria, Vilarrasa-Blasi, Roser, Verdaguer-Dot, Núria, Martens, Joost H. A., Duran-Ferrer, Martí, Kulis, Marta, Serra, François, Javierre, Biola M., Wingett, Steven W., Clot, Guillem, Queirós, Ana C., Castellano, Giancarlo, Blanc, Julie, Gut, Marta, Merkel, Angelika, Heath, Simon, Vlasova, Anna, Ullrich, Sebastian, Palumbo, Emilio, Enjuanes, Anna, Martín-García, David, Beà, Sílvia, Pinyol, Magda, Aymerich, Marta, Royo, Romina, Puiggros, Montserrat, Torrents, David, Datta, Avik, Lowy, Ernesto, Kostadima, Myrto, Roller, Maša, Clarke, Laura, Flicek, Paul, Agirre, Xabier, Prosper, Felipe, Baumann, Tycho, Delgado, Julio, López-Guillermo, Armando, Fraser, Peter, Yaspo, Marie-Laure, Guigó, Roderic, Siebert, Reiner, Martí-Renom, Marc A., Puente, Xose S., López-Otín, Carlos, Gut, Ivo, Stunnenberg, Hendrik G., Campo, Elias, and Martin-Subero, Jose I.

Published
2018
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9. Decoding the DNA Methylome of Mantle Cell Lymphoma in the Light of the Entire B Cell Lineage

Author

Queirós, Ana C., Beekman, Renée, Vilarrasa-Blasi, Roser, Duran-Ferrer, Martí, Clot, Guillem, Merkel, Angelika, Raineri, Emanuele, Russiñol, Nuria, Castellano, Giancarlo, Beà, Sílvia, Navarro, Alba, Kulis, Marta, Verdaguer-Dot, Núria, Jares, Pedro, Enjuanes, Anna, Calasanz, María José, Bergmann, Anke, Vater, Inga, Salaverría, Itziar, van de Werken, Harmen J.G., Wilson, Wyndham H., Datta, Avik, Flicek, Paul, Royo, Romina, Martens, Joost, Giné, Eva, Lopez-Guillermo, Armando, Stunnenberg, Hendrik G., Klapper, Wolfram, Pott, Christiane, Heath, Simon, Gut, Ivo G., Siebert, Reiner, Campo, Elías, and Martín-Subero, José I.

Published
2016
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10. 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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11. 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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12. Landscape of somatic mutations and clonal evolution in mantle cell lymphoma

Author

Beà, Sílvia, Valdés-Mas, Rafael, Navarro, Alba, Salaverria, Itziar, Martín-Garcia, David, Jares, Pedro, Giné, Eva, Pinyol, Magda, Royo, Cristina, Nadeu, Ferran, Conde, Laura, Juan, Manel, Clot, Guillem, Vizán, Pedro, Di Croce, Luciano, Puente, Diana A., López-Guerra, Mónica, Moros, Alexandra, Roue, Gael, Aymerich, Marta, Villamor, Neus, Colomo, Lluís, Martínez, Antonio, Valera, Alexandra, Martín-Subero, José I., Amador, Virginia, Hernández, Luis, Rozman, Maria, Enjuanes, Anna, Forcada, Pilar, Muntañola, Ana, Hartmann, Elena M., Calasanz, María J., Rosenwald, Andreas, Ott, German, Hernández-Rivas, Jesús M., Klapper, Wolfram, Siebert, Reiner, Wiestner, Adrian, Wilson, Wyndham H., Colomer, Dolors, López-Guillermo, Armando, López-Otín, Carlos, Puente, Xose S., and Campo, Elías

Published
2013

13. Intravascular Large B-Cell Lymphoma Genomic Profile Is Characterized by Alterations in Genes Regulating NF-κB and Immune Checkpoints.

Author

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

Published
2023
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14. Non-coding recurrent mutations in chronic lymphocytic leukaemia

Author

Puente, Xose S., Beà, Silvia, Valdés-Mas, Rafael, Villamor, Neus, Gutiérrez-Abril, Jesús, Martín-Subero, José I., Munar, Marta, Rubio-Pérez, Carlota, Jares, Pedro, Aymerich, Marta, Baumann, Tycho, Beekman, Renée, Belver, Laura, Carrio, Anna, Castellano, Giancarlo, Clot, Guillem, Colado, Enrique, Colomer, Dolors, Costa, Dolors, Delgado, Julio, Enjuanes, Anna, Estivill, Xavier, Ferrando, Adolfo A., Gelpí, Josep L., González, Blanca, González, Santiago, González, Marcos, Gut, Marta, Hernández-Rivas, Jesús M., López-Guerra, Mónica, Martín-García, David, Navarro, Alba, Nicolás, Pilar, Orozco, Modesto, Payer, Ángel R., Pinyol, Magda, Pisano, David G., Puente, Diana A., Queirós, Ana C., Quesada, Víctor, Romeo-Casabona, Carlos M., Royo, Cristina, Royo, Romina, Rozman, María, Russiñol, Nuria, Salaverría, Itziar, Stamatopoulos, Kostas, Stunnenberg, Hendrik G., Tamborero, David, Terol, María J., Valencia, Alfonso, López-Bigas, Nuria, Torrents, David, Gut, Ivo, López-Guillermo, Armando, López-Otín, Carlos, and Campo, Elías

Published
2015
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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.

Author

Vegliante, Maria Carmela, Mazzara, Saveria, Zaccaria, Gian Maria, De Summa, Simona, Esposito, Flavia, Melle, Federica, Motta, Giovanna, Sapienza, Maria Rosaria, Opinto, Giuseppina, Volpe, Giacomo, Bucci, Antonella, Gargano, Grazia, Enjuanes, Anna, Tabanelli, Valentina, Fiori, Stefano, Minoia, Carla, Clemente, Felice, Negri, Antonio, Gulino, Alessandro, and Morello, Gaia

Subjects
DIFFUSE large B-cell lymphomas, MACROPHAGES, GENE expression profiling
Abstract

The role of macrophages (Mo) and their prognostic impact in diffuse large B‐cell lymphomas (DLBCL) remain controversial. By regulating the lipid metabolism, Liver‐X‐Receptors (LXRs) control Mo polarization/inflammatory response, and their pharmacological modulation is under clinical investigation to treat human cancers, including lymphomas. Herein, we surveyed the role of LXRs in DLBCL for prognostic purposes. Comparing bulk tumors with purified malignant and normal B‐cells, we found an intriguing association of NR1H3, encoding for the LXR‐α isoform, with the tumor microenvironment (TME). CIBERSORTx‐based purification on large DLBCL datasets revealed a high expression of the receptor transcript in M1‐like pro‐inflammatory Mo. By determining an expression cut‐off of NR1H3, we used digital measurement to validate its prognostic capacity on two large independent on‐trial and real‐world cohorts. Independently of classical prognosticators, NR1H3high patients displayed longer survival compared with NR1H3low cases and a high‐resolution Mo GEP dissection suggested a remarkable transcriptional divergence between subgroups. Overall, our findings indicate NR1H3 as a Mo‐related biomarker identifying patients at higher risk and prompt future preclinical studies investigating its mouldability for therapeutic purposes. [ABSTRACT FROM AUTHOR]

Published
2022
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18. Differential genetic effects of ESR1 gene polymorphisms on osteoporosis outcomes

Author

Ioannidis, John P.A., Ralston, Stuart H., Bennett, Simon T., Brandi, Maria Luisa, Schuit, Stephanie C.E., Sherlock, Rachael E., Grinberg, Daniel, Karassa, Fotini, B., Langdahl, Bente, Meurs, Joyce B.J. van, Mosekilde, Leif, Uitterlinden, Andre G., Scollen, Serena, Albagha, Omar M.E., Bustamante, Mariona, Carey, Alisoun H., Dunning, Alison M., Enjuanes, Anna, Leeuwen, Johannes P.T.M. van, Mavilia, Carmelo, Masi, Laura, McGuigan, Fiona E.A., Norgues, Xavier, Pols, Huibert A.P., and Reid, David M.

Subjects
Genetic polymorphisms -- Research, Osteoporosis -- Patient outcomes
Abstract

Osteoporosis is a common disease characterized by reduced bone mass and an increased risk of fracture and estrogen receptor alpha (ESR1) is a candidate gene for osteoporosis. The value of adequately powered studies with standardized genotyping and clinical outcomes in defining effects of common genetic variants on complex diseases is demonstrated.

Published
2004

19. Genome-wide methylation analyses identify a subset of mantle cell lymphoma with a high number of methylated CpGs and aggressive clinicopathological features

Author

Enjuanes, Anna, Albero, Robert, Clot, Guillem, Navarro, Alba, Beà, Sílvia, Pinyol, Magda, Martín-Subero, José I., Klapper, Wolfram, Staudt, Louis M., Jaffe, Elaine S., Rimsza, Lisa, Braziel, Rita M., Delabie, Jan, Cook, James R., Tubbs, Raymond R., Gascoyne, Randy, Connors, Joseph M., Weisenburger, Dennis D., Greiner, Timothy C., Chan, Wing-Chung, López-Guillermo, Armando, Rosenwald, Andreas, Ott, German, Campo, Elías, and Jares, Pedro

Published
2013
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20. Cell-Free DNA for Genomic Analysis in Primary Mediastinal Large B-Cell Lymphoma.

Author

Rivas-Delgado, Alfredo, Nadeu, Ferran, Andrade-Campos, Marcio, López, Cristina, Enjuanes, Anna, Mozas, Pablo, Frigola, Gerard, Colomo, Luis, Sanchez-Gonzalez, Blanca, Villamor, Neus, Beà, Sílvia, Campo, Elías, Salar, Antonio, Giné, Eva, López-Guillermo, Armando, and Bellosillo, Beatriz

Subjects
CELL-free DNA, DNA analysis, GENOMICS, NUCLEOTIDE sequencing, LYMPHOMAS, CIRCULATING tumor DNA, CD30 antigen, DIFFUSE large B-cell lymphomas
Abstract

High-throughput sequencing of cell-free DNA (cfDNA) has emerged as a promising noninvasive approach in lymphomas, being particularly useful when a biopsy specimen is not available for molecular analysis, as it frequently occurs in primary mediastinal large B-cell lymphoma (PMBL). We used cfDNA for genomic characterization in 20 PMBL patients by means of a custom NGS panel for gene mutations and low-pass whole-genome sequencing (WGS) for copy number analysis (CNA) in a real-life setting. Appropriate cfDNA to perform the analyses was obtained in 18/20 cases. The sensitivity of cfDNA to detect the mutations present in paired FFPE samples was 69% (95% CI: 60–78%). The mutational landscape found in cfDNA samples was highly consistent with that of the tissue, with the most frequently mutated genes being B2M (61%), SOCS1 (61%), GNA13 (44%), STAT6 (44%), NFKBIA (39%), ITPKB (33%), and NFKBIE (33%). Overall, we observed a 75% concordance to detect CNA gains/losses between DNA microarray and low-pass WGS. The sensitivity of low-pass WGS was remarkably higher for clonal CNA (18/20, 90%) compared to subclonal alterations identified by DNA microarray. No significant associations between cfDNA amount and tumor burden or outcome were found. cfDNA is an excellent alternative source for the accurate genetic characterization of PMBL cases. [ABSTRACT FROM AUTHOR]

Published
2022
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25. Whole-genome sequencing identifies recurrent mutations in chronic lymphocytic leukaemia

Author

Puente, Xose S., Pinyol, Magda, Quesada, Víctor, Conde, Laura, Ordóñez, Gonzalo R., Villamor, Neus, Escaramis, Georgia, Jares, Pedro, Beà, Sílvia, González-Díaz, Marcos, Bassaganyas, Laia, Baumann, Tycho, Juan, Manel, López-Guerra, Mónica, Colomer, Dolors, Tubío, José M. C., López, Cristina, Navarro, Alba, Tornador, Cristian, Aymerich, Marta, Rozman, María, Hernández, Jesús M., Puente, Diana A., Freije, José M. P., Velasco, Gloria, Gutiérrez-Fernández, Ana, Costa, Dolors, Carrió, Anna, Guijarro, Sara, Enjuanes, Anna, Hernández, Lluís, Yagüe, Jordi, Nicolás, Pilar, Romeo-Casabona, Carlos M., Himmelbauer, Heinz, Castillo, Ester, Dohm, Juliane C., de Sanjosé, Silvia, Piris, Miguel A., de Alava, Enrique, Miguel, Jesús San, Royo, Romina, Gelpí, Josep L., Torrents, David, Orozco, Modesto, Pisano, David G., Valencia, Alfonso, Guigó, Roderic, Bayés, Mónica, Heath, Simon, Gut, Marta, Klatt, Peter, Marshall, John, Raine, Keiran, Stebbings, Lucy A., Futreal, Andrew P., Stratton, Michael R., Campbell, Peter J., Gut, Ivo, López-Guillermo, Armando, Estivill, Xavier, Montserrat, Emili, López-Otín, Carlos, and Campo, Elías

Published
2011
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28. Revised International Prognostic Index and genetic alterations are associated with early failure to R‐CHOP in patients with diffuse large B‐cell lymphoma.

Author

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]

Published
2022
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29. The Association between Common Vitamin D Receptor Gene Variations and Osteoporosis: A Participant-Level Meta-Analysis

Author

Uitterlinden, André G., Ralston, Stuart H., Brandi, Maria Luisa, Carey, Alisoun H., Grinberg, Daniel, Langdahl, Bente L., Lips, Paul, Lorenc, Roman, Obermayer-Pietsch, Barbara, Reeve, Jonathan, Reid, David M., Amidei, Antonietta, Bassiti, Amelia, Bustamante, Mariona, Husted, Lise Bjerre, Diez-Perez, Adolfo, Dobnig, Harald, Dunning, Alison M., Enjuanes, Anna, Fahrleitner-Pammer, Astrid, Fang, Yue, Karczmarewicz, Elzbieta, Kruk, Marcin, van Leeuwen, Johannes P.T.M., Mavilia, Carmelo, van Meurs, Joyce B.J., Mangion, Jon, McGuigan, Fiona E.A., Pols, Huibert A.P., Renner, Wilfried, Rivadeneira, Fernando, van Schoor, Natasja M., Scollen, Serena, Sherlock, Rachael E., and Ioannidis, John P.A.

Published
2006

30. Blocking interferon γ reduces expression of chemokines CXCL9, CXCL10 and CXCL11 and decreases macrophage infiltration in ex vivo cultured arteries from patients with giant cell arteritis.

Author

Corbera-Bellalta, Marc, Planas-Rigol, Ester, Lozano, Ester, Terrades-García, Nekane, Alba, Marco A., Prieto-González, Sergio, García-Martínez, Ana, Albero, Robert, Enjuanes, Anna, Espígol-Frigolé, Georgina, Hernández-Rodríguez, José, Roux-Lombard, Pascale, Ferlin, Walter G., Dayer, Jean-Michel, Kosco-Vilbois, Marie H., and Cid, Maria C.

Abstract

Background: Interferon γ (IFNγ) is considered a seminal cytokine in the pathogenesis of giant cell arteritis (GCA), but its functional role has not been investigated. We explored changes in infiltrating cells and biomarkers elicited by blocking IFNγ with a neutralising monoclonal antibody, A6, in temporal arteries from patients with GCA.Methods: Temporal arteries from 34 patients with GCA (positive histology) and 21 controls were cultured on 3D matrix (Matrigel) and exposed to A6 or recombinant IFNγ. Changes in gene/protein expression were measured by qRT-PCR/western blot or immunoassay. Changes in infiltrating cells were assessed by immunohistochemistry/immunofluorescence. Chemotaxis/adhesion assays were performed with temporal artery-derived vascular smooth muscle cells (VSMCs) and peripheral blood mononuclear cells (PBMCs).Results: Blocking endogenous IFNγ with A6 abrogated STAT-1 phosphorylation in cultured GCA arteries. Furthermore, selective reduction in CXCL9, CXCL10 and CXCL11 chemokine expression was observed along with reduction in infiltrating CD68 macrophages. Adding IFNγ elicited consistent opposite effects. IFNγ induced CXCL9, CXCL10, CXCL11, CCL2 and intracellular adhesion molecule-1 expression by cultured VSMC, resulting in increased PBMC chemotaxis/adhesion. Spontaneous expression of chemokines was higher in VSMC isolated from GCA-involved arteries than in those obtained from controls. Incubation of IFNγ-treated control arteries with PBMC resulted in adhesion/infiltration by CD68 macrophages, which did not occur in untreated arteries.Conclusions: Our ex vivo system suggests that IFNγ may play an important role in the recruitment of macrophages in GCA by inducing production of specific chemokines and adhesion molecules. Vascular wall components (ie, VSMC) are mediators of these functions and may facilitate progression of inflammatory infiltrates through the vessel wall. [ABSTRACT FROM AUTHOR]

Published
2016
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31. NOTCH1, TP53, and MAP2K1 Mutations in Splenic Diffuse Red Pulp Small B-cell Lymphoma Are Associated With Progressive Disease.

Author

Martinez, Daniel, Navarro, Alba, Martinez-Trillos, Alejandra, Molina-Urra, Ricardo, Gonzalez-Farre, Blanca, Salaverria, Itziar, Nadeu, Ferran, Enjuanes, Anna, Clot, Guillem, Costa, Dolors, Carrio, Ana, Villamor, Neus, Colomer, Dolors, Martinez, Antonio, Bens, Susanne, Siebert, Reiner, Wotherspoon, Andrew, Beà, Sílvia, Matutes, Estella, and Campo, Elias

Published
2016
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33. Epigenetic Activation of SOX11 in Lymphoid Neoplasms by Histone Modifications.

Author

Vegliante, Maria Carmela, Royo, Cristina, Palomero, Jara, Salaverria, Itziar, Balint, Balazs, Martín-Guerrero, Idoia, Agirre, Xabier, Lujambio, Amaia, Richter, Julia, Xargay-Torrent, Silvia, Bea, Silvia, Hernandez, Luis, Enjuanes, Anna, Calasanz, María José, Rosenwald, Andreas, Ott, German, Roman-Gomez, José, Prosper, Felipe, Esteller, Manel, and Jares, Pedro

Subjects
EPIGENETICS, TRANSCRIPTION factors, LYMPHOID tissue, TUMORS, HISTONES, B cells, HEMATOPOIETIC system, EMBRYONIC stem cells, CELL lines
Abstract

Recent studies have shown aberrant expression of SOX11 in various types of aggressive B-cell neoplasms. To elucidate the molecular mechanisms leading to such deregulation, we performed a comprehensive SOX11 gene expression and epigenetic study in stem cells, normal hematopoietic cells and different lymphoid neoplasms. We observed that SOX11 expression is associated with unmethylated DNA and presence of activating histone marks (H3K9/14Ac and H3K4me3) in embryonic stem cells and some aggressive B-cell neoplasms. In contrast, adult stem cells, normal hematopoietic cells and other lymphoid neoplasms do not express SOX11. Such repression was associated with silencing histone marks H3K9me2 and H3K27me3. The SOX11 promoter of non-malignant cells was consistently unmethylated whereas lymphoid neoplasms with silenced SOX11 tended to acquire DNA hypermethylation. SOX11 silencing in cell lines was reversed by the histone deacetylase inhibitor SAHA but not by the DNA methyltransferase inhibitor AZA. These data indicate that, although DNA hypermethylation of SOX11 is frequent in lymphoid neoplasms, it seems to be functionally inert, as SOX11 is already silenced in the hematopoietic system. In contrast, the pathogenic role of SOX11 is associated with its de novo expression in some aggressive lymphoid malignancies, which is mediated by a shift from inactivating to activating histone modifications. [ABSTRACT FROM AUTHOR]

Published
2011
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34. Identification of Methylated Genes Associated with Aggressive Clinicopathological Features in Mantle Cell Lymphoma.

Author

Enjuanes, Anna, Fernàndez, Verònica, Hernández, Luis, Navarro, Alba, Beà, Sílvia, Pinyol, Magda, López-Guillermo, Armando, Rosenwald, Andreas, Ott, German, Campo, Elías, and Jares, Pedro

Subjects
*TUMORS, *METHYLATION, *CELL lines, *ONCOLOGY, *GENE expression
Abstract

Background: Mantle cell lymphoma (MCL) is genetically characterized by the t(11;14)(q13;q32) translocation and a high number of secondary chromosomal alterations. The contribution of DNA methylation to MCL lymphomagenesis is not well known. We sought to identify epigenetically silenced genes in these tumours that might have clinical relevance. Methodology/Principal Findings: To identify potential methylated genes in MCL we initially investigated seven MCL cell lines treated with epigenetic drugs and gene expression microarray profiling. The methylation status of selected candidate genes was validated by a quantitative assay and subsequently analyzed in a series of primary MCL (n = 38). After pharmacological reversion we identified 252 potentially methylated genes. The methylation analysis of a subset of these genes (n = 25) in the MCL cell lines and normal B lymphocytes confirmed that 80% of them were methylated in the cell lines but not in normal lymphocytes. The subsequent analysis in primary MCL identified five genes (SOX9, HOXA9, AHR, NR2F2, and ROBO1) frequently methylated in these tumours. The gene methylation events tended to occur in the same primary neoplasms and correlated with higher proliferation, increased number of chromosomal abnormalities, and shorter survival of the patients. Conclusions: We have identified a set of genes whose methylation degree and gene expression levels correlate with aggressive clinicopathological features of MCL. Our findings also suggest that a subset of MCL might show a CpG island methylator phenotype (CIMP) that may influence the behaviour of the tumours. [ABSTRACT FROM AUTHOR]

Published
2011
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35. Common variants at 2q37.3, 8q24.21, 15q21.3 and 16q24.1 influence chronic lymphocytic leukemia risk.

Author

Crowther-Swanepoel, Dalemari, Broderick, Peter, Di Bernardo, Maria Chiara, Dobbins, Sara E., Torres, María, Mansouri, Mahmoud, Ruiz-Ponte, Clara, Enjuanes, Anna, Rosenquist, Richard, Carracedo, Angel, Jurlander, Jesper, Campo, Elias, Juliusson, Gunnar, Montserrat, Emilio, Smedby, Karin E., Dyer, Martin J. S., Matutes, Estella, Dearden, Claire, Sunter, Nicola J., and Hall, Andrew G.

Subjects
CHRONIC lymphocytic leukemia, GENOMICS, DNA, LOCUS (Genetics), MULTIPLE sclerosis, CELL division, GENE frequency
Abstract

To identify new risk variants for chronic lymphocytic leukemia (CLL), we conducted a genome-wide association study of 299,983 tagging SNPs, with validation in four additional series totaling 2,503 cases and 5,789 controls. We identified four new risk loci for CLL at 2q37.3 (rs757978, FARP2; odds ratio (OR) = 1.39; P = 2.11 × 10−9), 8q24.21 (rs2456449; OR = 1.26; P = 7.84 × 10−10), 15q21.3 (rs7169431; OR = 1.36; P = 4.74 × 10−7) and 16q24.1 (rs305061; OR = 1.22; P = 3.60 × 10−7). We also found evidence for risk loci at 15q25.2 (rs783540, CPEB1; OR = 1.18; P = 3.67 × 10−6) and 18q21.1 (rs1036935; OR = 1.22; P = 2.28 × 10−6). These data provide further evidence for genetic susceptibility to this B-cell hematological malignancy. [ABSTRACT FROM AUTHOR]

Published
2010
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38. MYC and TP53 Alterations but Not MAPK Pathway Mutations Are Common Oncogenic Mechanisms in Follicular Dendritic Cell Sarcomas.

Author

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

Subjects
*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]

Published
2023
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