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1. Baseline immunophenotypic profile of bone marrow leukemia cells in acute myeloid leukemia with nucleophosmin-1 gene mutation: a EuroFlow study

Author

Matarraz, Sergio, Leoz, Pilar, Yeguas-Bermejo, Ana, van der Velden, Vincent, Bras, Anne E., Sánchez Gallego, Jose I., Lecrevisse, Quentin, Ayala-Bueno, Rosa, Teodosio, Cristina, Criado, Ignacio, González-González, María, Flores-Montero, Juan, Avendaño, Alejandro, Vidriales, María B., Chillón, María C., González, Teresa, García-Sanz, Ramón, Prieto Conde, María I., Villamor, Neus, Magnano, Laura, Colado, Enrique, Fernández, Paula, Sonneveld, Edwin, Philippé, Jan, Reiterová, Michaela, Caballero Berrocal, Juan C., Diaz-Gálvez, Francisco J., Ramos, Fernando, Dávila Valls, Julio, Manjón Sánchez, Raquel, Solano Tovar, Jackeline, Calvo, Xavier, García Alonso, Luis, Arenillas, Leonor, Alonso, Sara, Fonseca, Ariana, Quirós Caso, Covadonga, van Dongen, Jacques J. M., and Orfao, Alberto

Published
2023
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2. Proposed global prognostic score for systemic mastocytosis: a retrospective prognostic modelling study

Author

Muñoz-González, Javier I, Álvarez-Twose, Iván, Jara-Acevedo, María, Zanotti, Roberta, Perkins, Cecelia, Jawhar, Mohamad, Sperr, Wolfgang R, Shoumariyeh, Khalid, Schwaab, Juliana, Greiner, Georg, Henriques, Ana, Caldas, Carolina, Fernández-Giménez, Carlos, Sánchez-Muñoz, Laura, Mayado, Andrea, Pérez-Pons, Alba, Schmitt-Graeff, Annette, Duyster, Justus, Tanasi, Ilaria, Olivieri, Francesco, Mora-Casterá, Elvira, Luna, Irene, Senent, Leonor, Bañas, Maria-Helena, Nuñez-García, Amanda, Jurado-Chacón, Manuel, Martín-Sánchez, Guillermo, Colado, Enrique, Xicoy, Blanca, Gener-Ricós, Georgina, Gotlib, Jason, Bonadonna, Patrizia, Reiter, Andreas, Valent, Peter, García-Montero, Andrés C, and Orfao, Alberto

Published
2021
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3. IGLV3-21R110 mutation has prognostic value in patients with treatment-naive chronic lymphocytic leukemia

Author

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

Published
2023
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4. Basophil-lineage commitment in acute promyelocytic leukemia predicts for severe bleeding after starting therapy

Author

Matarraz, Sergio, Leoz, Pilar, Fernández, Carlos, Colado, Enrique, Chillón, María Carmen, Vidriales, María Belén, González, Marcos, Rivera, Daniel, Osuna, Carlos Salvador, Caballero-Velázquez, Teresa, Van Der Velden, Vincent, Jongen-Lavrencic, Mojca, Gutiérrez, Oliver, Bermejo, Ana Yeguas, Alonso, Luis García, García, Monique Bourgeois, De Ramón Sánchez, Cristina, García-Donas, Gloria, Mateo, Aránzazu García, Recio, Isabel, Sánchez-Real, Javier, Mayado, Andrea, Gutiérrez, María Laura, Bárcena, Paloma, Barrena, Susana, López, Antonio, Van Dongen, Jacques, and Orfao, Alberto

Published
2018
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5. 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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6. Baseline immunophenotypic profile of bone marrow leukemia cells in acute myeloid leukemia with nucleophosmin-1 gene mutation:a EuroFlow study

Author

Matarraz, Sergio, Leoz, Pilar, Yeguas-Bermejo, Ana, van der Velden, Vincent, Bras, Anne E., Sánchez Gallego, Jose I., Lecrevisse, Quentin, Ayala-Bueno, Rosa, Teodosio, Cristina, Criado, Ignacio, González-González, María, Flores-Montero, Juan, Avendaño, Alejandro, Vidriales, María B., Chillón, María C., González, Teresa, García-Sanz, Ramón, Prieto Conde, María I., Villamor, Neus, Magnano, Laura, Colado, Enrique, Fernández, Paula, Sonneveld, Edwin, Philippé, Jan, Reiterová, Michaela, Caballero Berrocal, Juan C., Diaz-Gálvez, Francisco J., Ramos, Fernando, Dávila Valls, Julio, Manjón Sánchez, Raquel, Solano Tovar, Jackeline, Calvo, Xavier, García Alonso, Luis, Arenillas, Leonor, Alonso, Sara, Fonseca, Ariana, Quirós Caso, Covadonga, van Dongen, Jacques J.M., Orfao, Alberto, Matarraz, Sergio, Leoz, Pilar, Yeguas-Bermejo, Ana, van der Velden, Vincent, Bras, Anne E., Sánchez Gallego, Jose I., Lecrevisse, Quentin, Ayala-Bueno, Rosa, Teodosio, Cristina, Criado, Ignacio, González-González, María, Flores-Montero, Juan, Avendaño, Alejandro, Vidriales, María B., Chillón, María C., González, Teresa, García-Sanz, Ramón, Prieto Conde, María I., Villamor, Neus, Magnano, Laura, Colado, Enrique, Fernández, Paula, Sonneveld, Edwin, Philippé, Jan, Reiterová, Michaela, Caballero Berrocal, Juan C., Diaz-Gálvez, Francisco J., Ramos, Fernando, Dávila Valls, Julio, Manjón Sánchez, Raquel, Solano Tovar, Jackeline, Calvo, Xavier, García Alonso, Luis, Arenillas, Leonor, Alonso, Sara, Fonseca, Ariana, Quirós Caso, Covadonga, van Dongen, Jacques J.M., and Orfao, Alberto

Published
2023

7. ELN iMDS flow working group validation of the monocyte assay for chronic myelomonocytic leukemia diagnosis by flow cytometry

Author

Wagner-Ballon, Orianne, Bettelheim, Peter, Lauf, Jeroen, Bellos, Frauke, Della Porta, Matteo G., Travaglino, Erica, Subirá, Dolores, Nuevo Lopez, Irene, Tarfi, Sihem, Westers, Theresia M., Johansson, Ulrika, Psarra, Katherina, Karathanos, Serafeim, Matarraz, Sergio, Colado, Enrique, Gupta, Monali, Ireland, Robin, Kern, Wolfgang, Loosdrecht, Arjan A. Van De, Wagner-Ballon, Orianne, Bettelheim, Peter, Lauf, Jeroen, Bellos, Frauke, Della Porta, Matteo G., Travaglino, Erica, Subirá, Dolores, Nuevo Lopez, Irene, Tarfi, Sihem, Westers, Theresia M., Johansson, Ulrika, Psarra, Katherina, Karathanos, Serafeim, Matarraz, Sergio, Colado, Enrique, Gupta, Monali, Ireland, Robin, Kern, Wolfgang, and Loosdrecht, Arjan A. Van De

Abstract

[Background]: It was proposed that peripheral blood (PB) monocyte profiles evaluated by flow cytometry, called “monocyte assay,” could rapidly and efficiently distinguish chronic myelomonocytic leukemia (CMML) from other causes of monocytosis by highlighting an increase in the classical monocyte (cMo) fraction above 94%. However, the robustness of this assay requires a large multicenter validation and the assessment of its feasibility on bone marrow (BM) samples, as some centers may not have access to PB. [Methods]: PB and/or BM samples from patients displaying monocytosis were assessed with the “monocyte assay” by 10 ELN iMDS Flow working group centers with harmonized protocols. The corresponding files were reanalyzed in a blind fashion and the cMo percentages obtained by both analyses were compared. Confirmed diagnoses were collected when available. [Results]: The comparison between cMo percentages from 267 PB files showed a good global significant correlation (r = 0.88) with no bias. Confirmed diagnoses, available for 212 patients, achieved a 94% sensitivity and an 84% specificity. Hence, 95/101 CMML patients displayed cMo ≥94% while cMo <94% was observed in 83/99 patients with reactive monocytosis and in 10/12 patients with myeloproliferative neoplasms (MPN) with monocytosis. The established Receiver Operator Curve again provided a 94% cut-off value of cMo. The 117 BM files reanalysis led to an 87% sensitivity and an 80% specificity, with excellent correlation between the 43 paired samples to PB. [Conclusions]: This ELN multicenter study demonstrates the robustness of the monocyte assay with only limited variability of cMo percentages, validates the 94% cutoff value, confirms its high sensitivity and specificity in PB and finally, also confirms the possibility of its use in BM samples.

Published
2023

8. Prognostic Value of Measurable Residual Disease in Patients with AML Undergoing HSCT: A Multicenter Study

Author

Instituto de Salud Carlos III, Red de Terapia Celular (España), Redes de Investigación Cooperativa Orientadas a Resultados en Salud (España), Caballero-Velázquez, Teresa, Pérez-López, Olga, Yeguas Bermejo, Ana, Rodríguez-Arbolí, Eduardo, Colado, Enrique, Sempere, Amparo, Vidriales, Maria Belén, Solé Rodriguez, María, Quirós Caso, Covadonga, Pérez-López, Estefanía, Reinoso-Segura, Marta, Prats-Martín, Concepción, Montesinos, Pau, Pérez-Simón, José A., Instituto de Salud Carlos III, Red de Terapia Celular (España), Redes de Investigación Cooperativa Orientadas a Resultados en Salud (España), Caballero-Velázquez, Teresa, Pérez-López, Olga, Yeguas Bermejo, Ana, Rodríguez-Arbolí, Eduardo, Colado, Enrique, Sempere, Amparo, Vidriales, Maria Belén, Solé Rodriguez, María, Quirós Caso, Covadonga, Pérez-López, Estefanía, Reinoso-Segura, Marta, Prats-Martín, Concepción, Montesinos, Pau, and Pérez-Simón, José A.

Abstract

Allogeneic hematopoietic stem cell transplantation (HSCT) represents the best therapeutic option for many patients with acute myeloid leukemia (AML). However, relapse remains the main cause of mortality after transplantation. The detection of measurable residual disease (MRD) by multiparameter flow cytometry (MFC) in AML, before and after HSCT, has been described as a powerful predictor of outcome. Nevertheless, multicenter and standardized studies are lacking. A retrospective analysis was performed, including 295 AML patients undergoing HSCT in 4 centers that worked according to recommendations from the Euroflow consortium. Among patients in complete remission (CR), MRD levels prior to transplantation significantly influenced outcomes, with overall (OS) and leukemia free survival (LFS) at 2 years of 76.7% and 67.6% for MRD-negative patients, 68.5% and 49.7% for MRD-low patients (MRD < 0.1), and 50.5% and 36.6% for MRD-high patients (MRD ≥ 0.1) (p < 0.001), respectively. MRD level did influence the outcome, irrespective of the conditioning regimen. In our patient cohort, positive MRD on day +100 after transplantation was associated with an extremely poor prognosis, with a cumulative incidence of relapse of 93.3%. In conclusion, our multicenter study confirms the prognostic value of MRD performed in accordance with standardized recommendations.

Published
2023

9. IGLV3-21R110 mutation has prognostic value in patients with treatment-naive chronic lymphocytic leukemia

Author

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.

Published
2023

10. Baseline immunophenotypic profile of bone marrow leukemia cells in acute myeloid leukemia with nucleophosmin-1 gene mutation: a EuroFlow study

Author

Instituto de Salud Carlos III, European Commission, Ministerio de Economía y Competitividad (España), Ministerio de Ciencia e Innovación (España), Ministry of Health of the Czech Republic, Matarraz, Sergio, Leoz, Pilar, Yeguas Bermejo, Ana, Velden, Vincent H. J. van der, Bras, A. E., Sánchez Gallego, Jose I., Lécrevisse, Quentin, Ayala Bueno, Rosa, Teodosio, Cristina, Criado, Ignacio, González-González, María, Flores-Montero, Juan, Avendaño, Alejandro, Vidriales, Maria Belén, Chillón, M. del Carmen, González, Teresa, García-Sanz, Ramón, Prieto Conde, María I., Villamor, Neus, Magnano, Laura, Colado, Enrique, Fernández, Paula, Sonneveld, Edwin, Philippé, J., Reiterová, Michaela, Caballero‐Berrocal, Juan C., Díaz Gálvez, Francisco Javier, Ramos, Fernando, Dávila, Julio, Manjón Sánchez, Raquel, Solano Tovar, Jackeline, Calvo, Xavier, García Alonso, Luis, Arenillas, Leonor, Alonso, Sara, Fonseca, Ariana, Quirós Caso, Covadonga, Dongen, J. J. M. van, Orfao, Alberto, Instituto de Salud Carlos III, European Commission, Ministerio de Economía y Competitividad (España), Ministerio de Ciencia e Innovación (España), Ministry of Health of the Czech Republic, Matarraz, Sergio, Leoz, Pilar, Yeguas Bermejo, Ana, Velden, Vincent H. J. van der, Bras, A. E., Sánchez Gallego, Jose I., Lécrevisse, Quentin, Ayala Bueno, Rosa, Teodosio, Cristina, Criado, Ignacio, González-González, María, Flores-Montero, Juan, Avendaño, Alejandro, Vidriales, Maria Belén, Chillón, M. del Carmen, González, Teresa, García-Sanz, Ramón, Prieto Conde, María I., Villamor, Neus, Magnano, Laura, Colado, Enrique, Fernández, Paula, Sonneveld, Edwin, Philippé, J., Reiterová, Michaela, Caballero‐Berrocal, Juan C., Díaz Gálvez, Francisco Javier, Ramos, Fernando, Dávila, Julio, Manjón Sánchez, Raquel, Solano Tovar, Jackeline, Calvo, Xavier, García Alonso, Luis, Arenillas, Leonor, Alonso, Sara, Fonseca, Ariana, Quirós Caso, Covadonga, Dongen, J. J. M. van, and Orfao, Alberto

Abstract

Molecular techniques are the gold standard method for the diagnosis of AML with mutated nucleophosmin gene (NPM1mut). However, their worldwide availability is limited and they provide limited insight into disease heterogeneity. Hence, surrogate markers of NPM1mut are used for fast diagnostic screening of the disease [1], including, among others, immunohistochemical detection of cytoplasmic NPM1 (NPM1c) [2], cup-like nuclear morphology [3], normal karyotype, and/or recurrent flow cytometry profiles -e.g., CD34 negativity, and/or a phenotype resembling acute promyelocytic leukemia (APL)- [4]. Nevertheless, some of these methods are also not widely available, they show limited sensitivity (e.g., low or absent NPM1c expression, particularly among monoblastic/monocytic AML-NPM1mut) [5], frequently lack standardized procedures [1], and they might also bring limited information about disease heterogeneity.

Published
2023

11. IGLV3-21$^{R110}$ mutation has prognostic value in patients with treatment-naive chronic lymphocytic leukemia

Author

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

Published
2023

14. Mutations in TLR/MYD88pathway identify a subset of young chronic lymphocytic leukemia patients with favorable outcome

Author

Martínez-Trillos, Alejandra, Pinyol, Magda, Navarro, Alba, Aymerich, Marta, Jares, Pedro, Juan, Manel, Rozman, María, Colomer, Dolors, Delgado, Julio, Giné, Eva, González-Díaz, Marcos, Hernández-Rivas, Jesús M., Colado, Enrique, Rayón, Consolación, Payer, Angel R., Terol, Maria José, Navarro, Blanca, Quesada, Victor, Puente, Xosé S., Rozman, Ciril, López-Otín, Carlos, Campo, Elías, López-Guillermo, Armando, and Villamor, Neus

Published
2014
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16. Loss of the proteostasis factor AIRAPL causes myeloid transformation by deregulating IGF-1 signaling

Author

Osorio, Fernando G., Soria-Valles, Clara, Santiago-Fernandez, Olaya, Bernal, Teresa, Mittelbrunn, Maria, Colado, Enrique, Rodriguez, Francisco, Bonzon-Kulichenko, Elena, Vazquez, Jesus, Porta-de-la-Riva, Montserrat, Ceron, Julian, Fueyo, Antonio, Li, Juan, Green, Anthony R., Freije, Jose M.P., and Lopez-Otin, Carlos

Subjects
Insulin-like growth factor I -- Physiological aspects -- Genetic aspects -- Research, Gene mutation -- Physiological aspects -- Research, Myeloproliferative disorders -- Development and progression -- Genetic aspects -- Research, Biological sciences, Health
Abstract

AIRAPL (arsenite-inducible RNA-associated protein-like) is an evolutionarily conserved regulator of cellular proteostasis linked to longevity in nematodes, but its biological function in mammals is unknown (1-3). We show herein that AIRAPL-deficient mice develop a fully-penetrant myeloproliferative neoplastic process. Proteomic analysis of AIRAPL-deficient mice revealed that this protein exerts its antineoplastic function through the regulation of the insulin/insulin-like growth factor 1 (IGF-1) signaling pathway. We demonstrate that AIRAPL interacts with newly synthesized insulin-related growth factor-1 receptor (IGF1R) polypeptides, promoting their ubiquitination and proteasome-mediated degradation. Accordingly, genetic and pharmacological IGF1R inhibitory strategies prevent the hematological disease found in AIRAPL-deficient mice as well as that in mice carrying the [Jak2.sup.V617F] mutation, thereby demonstrating the causal involvement of this pathway in the pathogenesis of myeloproliferative neoplasms (4-6). Consistent with its proposed role as a tumor suppressor of myeloid transformation, AIRAPL expression is widely abrogated in human myeloproliferative disorders. Collectively, these findings support the oncogenic relevance of proteostasis deregulation in hematopoietic cells, and they unveil novel therapeutic targets for these frequent hematological neoplasias., Protein homeostasis is essential for a proper response to cellular stress conditions (7). Regulatory mechanisms of protein quality control preserve the stability and functionality of the cellular proteome (8-10), and [...]

Published
2016

18. Routine flow cytometry approach for the evaluation of solid tumor neoplasms and immune cells in minimally invasive samples

Author

Quirós‐Caso, Covadonga, primary, Arias Fernández, Tamara, additional, Fonseca‐Mourelle, Ariana, additional, Torres, Héctor, additional, Fernández, Luis, additional, Moreno‐Rodríguez, Maria, additional, Ariza‐Prota, Miguel Ángel, additional, López‐González, Francisco Julián, additional, Carvajal‐Álvarez, Miguel, additional, Alonso‐Álvarez, Sara, additional, Moro‐García, Marco Antonio, additional, and Colado, Enrique, additional

Published
2022
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19. ELN IMDS Flow Working Group Validation of the Monocyte Assay for Chronic Myelomonocytic Leukemia Diagnosis By Flow Cytometry

Author

Wagner-Ballon, Orianne, primary, Bettelheim, Peter, additional, Lauf, Jeroen, additional, Bellos, Frauke, additional, Della Porta, Matteo G., additional, Travaglino, Erica, additional, Subirá, Dolores, additional, Nuevo, Irene, additional, Tarfi, Sihem, additional, Westers, Theresia M., additional, Johansson, Ulrika, additional, Psarra, Katherina, additional, Karathanos, Serafeim, additional, Matarraz, Sergio, additional, Colado, Enrique, additional, Gupta, Monali, additional, Ireland, Robin M., additional, Kern, Wolfgang, additional, and van de Loosdrecht, Arjan, additional

Published
2021
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20. 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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21. ELN iMDS flow working group validation of the monocyte assay for chronic myelomonocytic leukemia diagnosis by flow cytometry.

Author

Wagner‐Ballon, Orianne, Bettelheim, Peter, Lauf, Jeroen, Bellos, Frauke, Della Porta, Matteo, Travaglino, Erica, Subira, Dolores, Lopez, Irene Nuevo, Tarfi, Sihem, Westers, Theresia M., Johansson, Ulrika, Psarra, Katherina, Karathanos, Serafeim, Matarraz, Sergio, Colado, Enrique, Gupta, Monali, Ireland, Robin, Kern, Wolfgang, and Van De Loosdrecht, Arjan A.

Published
2023
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26. Prognostic Factors of Chronic Graft-versus-Host Disease Following Allogeneic Peripheral Blood Stem Cell Transplantation: The National Institutes Health Scale Plus the Type of Onset Can Predict Survival Rates and the Duration of Immunosuppressive Therapy

Author

Pérez-Simón, José A., Encinas, Cristina, Silva, Fernando, Arcos, Maria José, Díez-Campelo, María, Sánchez-Guijo, Fermín M., Colado, Enrique, Martín, Jesús, Vazquez, Lourdes, del Cañizo, Consuelo, Caballero, Dolores, and San Miguel, Jesús

Published
2008
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27. Impact of Measurable Residual Disease (MRD) By Multiparameter Flow Cytometry (MFC): A Real-World Study in 1,076 Patients with Acute Myeloid Leukemia (AML)

Author

Paiva, Bruno, Belén Vidriales, María, Sampere Talens, Maria Desamparados, Tarin, Fabian, Colado, Enrique, Benavente, Celina, Cedena, María Teresa, Sanchez, Joaquin, Caballero-Velázquez, Teresa, Cordon, Lourdes, Martínez-Cuadron, David, Bernal del Castillo, Teresa, Botella, Carmen, Grille, Sofia, Serrano, Josefina, Rodriguez, Carlos, Algarra, Jesús Lorenzo, Alonso Dominguez, Juan Manuel, Amigo, Maria Luz, BARRIOS García, Manuel, García-Boyero, Raimundo, Colorado, Mercedes, Perez De Oteyza, Jaime, Perez Encinas, Manuel, Costilla, Lissette Del Pilar, Sayas, Maria Jose, Pérez-López, Olga, González, Marcos, Perez-Simon, Jose A., Martinez-Lopez, Joaquin, Sossa, Claudia Lucia, Orfao, Alberto, San-Miguel, Jesús F., Sanz, Miguel, and Montesinos, Pau

Published
2020
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28. Population-based multicase-control study in common tumors in Spain (MCC-Spain): Rationale and study design = Estudio multicaso-control de base poblacional de tumores comunes en España (MCC-Spain): razón y diseño del estudio

Author

Castaño-Vinyals, Gemma, Aragonés, Nuria, Pérez-Gómez, Beatriz, Martín, Vicente, Llorca, Javier, Moreno, Victor, Altzibar, Jone-Miren, Ardanaz, Eva, Sanjosé Llongueras, Silvia de, Jiménez Moleón, José Juan, García Tardón, Adonina, Alguacil, Juan, Peiró Pérez, Rosana, Marcos-Gragera, Rafael, Navarro, Carmen, Pollán, Marina, Kogevinas, Manolis, Alonso, Maria Teresa, Amiano, Pilar, Arias, Cristina, Azpiri, Mikel, Benavente, Yolanda, Boldo, Elena, Bueno, Aurora, Bustamante, Mariona, Caballero, Francisco Javier, Campo Güerri, Elias, Cantón, Rafael, Capelo, Rocío, Carmona García, Maria Carme, Casabonne, Delphine, Chirlaque, María Dolores, Cirac, Judith, Clofent, Juan, Colado, Enrique, Costas, Laura, Crous, Marta, Campo, Rosa del, Díaz Santos, Marian, Dierssen Sotos, Trinidad, Ederra, María, Espinosa, Ana, Fernández Cabrera, Marieta, Fernández Somoano, Ana, Fernández-Villa, Tania, García García-Esquinas, Esther, García Martín, Paloma, Gómez Acebo, Inés, González Puga, Cristina, Gracia Lavedan, Esther, Guevara, Marcela, Guinó, Elisabet, Huerta, José María, Lope, Virginia, López-Abente Ortega, Gonzalo, López-Otín, Carlos, Martínez Argüelles, Begoña, Merino Salas, Sergio, Mirón Pozo, Benito, Molina de la Torre, Antonio José, Moreno, Eduardo, Moreno Iribas, Conchi, Olea, Nicolás, Osca-Gelis, Gemma, Paré, Laia, Porta, Miquel, Puig, Montse, Rivas del Fresno, Manuel, Robles, Claudia, Rodríguez Suarez, Marta María, Romero, Beatriz, Sáez Castillo, Ana Isabel, Sala i Serra, Maria, Salas Trejo, Dolores, Santaballa, Ana, Santibáñez, Miguel, Sierra, Ángeles, Souto, Ana, Villanueva, Cristina M., Carrasco, Estela, Sabaté, Yasmin, Persavento, Cecília, García, Mireia, Carrasco, Glòria, Expósito, Ainara, Andreu, Montse, Bessa, Xavier, Piracés, Mercè, Lorente, José Antonio, Tusquets, Ignasi, Collet, Inma, Bory, Felip, Pera, Manuel, Abella, Eugènia, Garcia, Francesc, Salar, Antonio, Piñol, Marta, Fernández-Llamazares Rodríguez, Jaume, Viciano Martín, Marta, and Garsot, Elisenda

Subjects
Epidemiology, Epidemiologia, Càncer, Cancer
Abstract

MCC-Spain study group: Maria Teresa Alonso, Pilar Amiano, Cristina Arias, Mikel Azpiri, Yolanda Benavente, Elena Boldo, Aurora Bueno, Mariona Bustamante, Francisco Javier Caballero, Elías Campo, Rafael Cantón, Rocío Capelo, Carme Carmona, Delphine Casabonne, María Dolores Chirlaque, Judith Cirac, Juan Clofent, Enrique Colado, Laura Costas, Marta Crous, Rosa del Campo, Marian Díaz Santos, Trinidad Dierssen-Sotos, María Ederra, Ana Espinosa, Marieta Fernández Cabrera, Ana Fernández Somoano, Fernández-Villa, Tania, Esther García García-Esquinas, Paloma García Martín, Inés Gómez-Acebo, Cristina González Puga, Esther Gràcia, Marcela Guevara Eslava, Elisabet Guinó, José María Huerta, Virginia Lope, Gonzalo López-Abente, Carlos Lopez-Otín, Begona˜ Martinez Argüelles, Sergio Merino Salas, Benito Mirón Pozo, Antonio José Molina de la Torre, Eduardo Moreno, Concepción Moreno Iribas, Nicolás Olea, Gemma Osca Gelis, Laia Paré, Miquel Porta, Montse Puig, Manuel Rivas del Fresno, Claudia Robles, Marta María Rodríguez Suarez, Beatriz Romero, Ana Isabel Sáez Castillo, Maria Sala Serra, Dolores Salas Trejo, Ana Santaballa, Miguel Santibánez, ˜ Ángeles Sierra, Ana Souto, Cristina M Villanueva We present the protocol of a large population-based case-control study of 5 common tumorsin Spain (MCC-Spain) that evaluates environmental exposures and genetic factors.Methods: Between 2008-2013, 10,183 persons aged 20-85 years were enrolled in 23 hospitals and pri-mary care centres in 12 Spanish provinces including 1,115 cases of a new diagnosis of prostate cancer,1,750 of breast cancer, 2,171 of colorectal cancer, 492 of gastro-oesophageal cancer, 554 cases of chroniclymphocytic leukaemia (CLL) and 4,101 population-based controls matched by frequency to cases by age,sex and region of residence. Participation rates ranged from 57% (stomach cancer) to 87% (CLL cases) andfrom 30% to 77% in controls. Participants completed a face-to-face computerized interview on sociode-mographic factors, environmental exposures, occupation, medication, lifestyle, and personal and familymedical history. In addition, participants completed a self-administered food-frequency questionnaireand telephone interviews. Blood samples were collected from 76% of participants while saliva sampleswere collected in CLL cases and participants refusing blood extractions. Clinical information was recordedfor cases and paraffin blocks and/or fresh tumor samples are available in most collaborating hospitals.Genotyping was done through an exome array enriched with genetic markers in specific pathways. Mul-tiple analyses are planned to assess the association of environmental, personal and genetic risk factorsfor each tumor and to identify pleiotropic effects.Discussion: This study, conducted within the Spanish Consortium for Biomedical Research in Epidemiol-ogy & Public Health (CIBERESP), is a unique initiative to evaluate etiological factors for common cancersand will promote cancer research and prevention in Spain

Published
2020

29. Impact of measurable residual disease by decentralized flow cytometry: a PETHEMA real-world study in 1076 patients with acute myeloid leukemia

Author

Centro de Investigación Biomédica en Red Cáncer (España), Instituto de Salud Carlos III, Junta de Castilla y León, Universidad de Navarra, Cancer Research UK, Fondazione Italiana per la Ricerca sul Cancro, Asociación Española Contra el Cáncer, Paiva, Bruno, Vidriales, Maria Belén, Sempere, Amparo, Tarín, Fabián, Colado, Enrique, Benavente, Celina, Cedena, Maria-Teresa, Sánchez, Joaquín, Caballero-Velázquez, Teresa, Cordón, Lourdes, Garcés, Juan José, Simoes, Catia, Martínez-Cuadrón, David, Bernal, T., Botella, Carmen, Grille, Sofía, Serrano-López, Josefina, Rodríguez-Medina, Carlos, Algarra, Lorenzo, Alonso-Domínguez, Juan Manuel, Amigo, María Luz, Barrios, Manuel, García-Boyero, Raimundo, Colorado, Mercedes, Pérez de Oteyza, Jaime, Pérez-Encinas, Manuel, Costilla-Barriga, Lisette, Sayas, María-José, Pérez, Olga, González, Marcos, Pérez-Simón, José A., Martínez-López, Joaquín, Sossa, Claudia, Orfao, Alberto, Miguel, Jesus F. San, Sanz, Miguel Ángel, Montesinos, Pau, Centro de Investigación Biomédica en Red Cáncer (España), Instituto de Salud Carlos III, Junta de Castilla y León, Universidad de Navarra, Cancer Research UK, Fondazione Italiana per la Ricerca sul Cancro, Asociación Española Contra el Cáncer, Paiva, Bruno, Vidriales, Maria Belén, Sempere, Amparo, Tarín, Fabián, Colado, Enrique, Benavente, Celina, Cedena, Maria-Teresa, Sánchez, Joaquín, Caballero-Velázquez, Teresa, Cordón, Lourdes, Garcés, Juan José, Simoes, Catia, Martínez-Cuadrón, David, Bernal, T., Botella, Carmen, Grille, Sofía, Serrano-López, Josefina, Rodríguez-Medina, Carlos, Algarra, Lorenzo, Alonso-Domínguez, Juan Manuel, Amigo, María Luz, Barrios, Manuel, García-Boyero, Raimundo, Colorado, Mercedes, Pérez de Oteyza, Jaime, Pérez-Encinas, Manuel, Costilla-Barriga, Lisette, Sayas, María-José, Pérez, Olga, González, Marcos, Pérez-Simón, José A., Martínez-López, Joaquín, Sossa, Claudia, Orfao, Alberto, Miguel, Jesus F. San, Sanz, Miguel Ángel, and Montesinos, Pau

Abstract

The role of decentralized assessment of measurable residual disease (MRD) for risk stratification in acute myeloid leukemia (AML) remains largely unknown, and so it does which methodological aspects are critical to empower the evaluation of MRD with prognostic significance, particularly if using multiparameter flow cytometry (MFC). We analyzed 1076 AML patients in first remission after induction chemotherapy, in whom MRD was evaluated by MFC in local laboratories of 60 Hospitals participating in the PETHEMA registry. We also conducted a survey on technical aspects of MRD testing to determine the impact of methodological heterogeneity in the prognostic value of MFC. Our results confirmed the recommended cutoff of 0.1% to discriminate patients with significantly different cumulative-incidence of relapse (-CIR- HR:0.71, P < 0.001) and overall survival (HR: 0.73, P = 0.001), but uncovered the limited prognostic value of MFC based MRD in multivariate and recursive partitioning models including other clinical, genetic and treatment related factors. Virtually all aspects related with methodological, interpretation, and reporting of MFC based MRD testing impacted in its ability to discriminate patients with different CIR. Thus, this study demonstrated that “real-world” assessment of MRD using MFC is prognostic in patients at first remission, and urges greater standardization for improved risk-stratification toward clinical decisions in AML.

Published
2021

30. ELN iMDSflow working group validation of the monocyte assay for chronic myelomonocytic leukemia diagnosis by flow cytometry

Author

Wagner‐Ballon, Orianne, Bettelheim, Peter, Lauf, Jeroen, Bellos, Frauke, Della Porta, Matteo, Travaglino, Erica, Subira, Dolores, Lopez, Irene Nuevo, Tarfi, Sihem, Westers, Theresia M., Johansson, Ulrika, Psarra, Katherina, Karathanos, Serafeim, Matarraz, Sergio, Colado, Enrique, Gupta, Monali, Ireland, Robin, Kern, Wolfgang, and Van De Loosdrecht, Arjan A.

Abstract

Background:It was proposed that peripheral blood (PB) monocyte profiles evaluated by flow cytometry, called “monocyte assay,” could rapidly and efficiently distinguish chronic myelomonocytic leukemia (CMML) from other causes of monocytosis by highlighting an increase in the classical monocyte (cMo) fraction above 94%. However, the robustness of this assay requires a large multicenter validation and the assessment of its feasibility on bone marrow (BM) samples, as some centers may not have access to PB. Methods:PB and/or BM samples from patients displaying monocytosis were assessed with the “monocyte assay” by 10 ELN iMDS Flow working group centers with harmonized protocols. The corresponding files were reanalyzed in a blind fashion and the cMo percentages obtained by both analyses were compared. Confirmed diagnoses were collected when available. Results:The comparison between cMo percentages from 267 PB files showed a good global significant correlation (r= 0.88) with no bias. Confirmed diagnoses, available for 212 patients, achieved a 94% sensitivity and an 84% specificity. Hence, 95/101 CMML patients displayed cMo ≥94% while cMo <94% was observed in 83/99 patients with reactive monocytosis and in 10/12 patients with myeloproliferative neoplasms (MPN) with monocytosis. The established Receiver Operator Curve again provided a 94% cut‐off value of cMo. The 117 BM files reanalysis led to an 87% sensitivity and an 80% specificity, with excellent correlation between the 43 paired samples to PB. Conclusions:This ELN multicenter study demonstrates the robustness of the monocyte assay with only limited variability of cMo percentages, validates the 94% cutoff value, confirms its high sensitivity and specificity in PB and finally, also confirms the possibility of its use in BM samples.

Published
2023
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32. Immunologic characterization of COVID-19 patients with hematological cancer

Author

Maia, Catarina, primary, Martín-Sánchez, Esperanza, additional, Garcés, Juan José, additional, De Cerio, Ascensión López-Díaz, additional, Inogés, Susana, additional, Landecho, Manuel F., additional, Gil-Alzugaray, Belén, additional, Perez, Cristina, additional, Botta, Cirino, additional, Zabaleta, Aintzane, additional, Alegre, Félix, additional, Rincón, César, additional, Blanco, Laura, additional, Sarvide, Sarai, additional, Vilas-Zornoza, Amaia, additional, Alignani, Diego, additional, Moreno, Cristina, additional, Paiva, Artur, additional, Martinho, António, additional, Alves, Rui, additional, Colado, Enrique, additional, Quirós, Covadonga, additional, Olid, Mónica, additional, Blanco, Andrés, additional, Argemi, Josepmaria, additional, Paiva, Bruno, additional, and Yuste, José Ramón, additional

Published
2020
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34. Liver function tests and absolute lymphocyte count at day + 100 are predictive factors for extensive and severe chronic graft-versus-host disease after allogeneic peripheral blood stem cell transplant

Author

Silva, Fernando, Pérez-Simón, José A., Velazquez, Teresa Caballero, Encinas, Cristina, Sánchez-Guijo, Fermin M., Diez-Campelo, Maria, Colado, Enrique, Martin, Jesus, Villanueva-Gomez, Fernanda, Vazquez, Lourdes, del Cañizo, Consuelo, Caballero, Dolores, and Miguel, Jesús San

Published
2010
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36. 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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37. Altered Immunophenotypes on Leukemic and/or Monocytic Cells from Acute Myeloid Leukemia Highly Predict for Nucleophosmin Gene Mutation

Author

Matarraz, Sergio, primary, Leoz, Pilar, additional, Calvo, Xavier, additional, García Alonso, Luis, additional, Ayala Bueno, Rosa, additional, Sánchez-Gallego, José Ignacio, additional, Villamor, Neus, additional, Colado, Enrique, additional, Belén Vidriales, María, additional, Prieto Conde, María Isabel, additional, Chillon, Maria Carmen, additional, García-Sanz, Ramón, additional, Van Der Velden, Vincent H.J., additional, López Cadenas, Félix, additional, Díez-Campelo, María, additional, Arenillas, Leonor, additional, Alonso, Sara, additional, Fonseca, Ariana, additional, Quirós Caso, Covadonga, additional, Magnano, Laura, additional, Garcia Vela, José Antonio, additional, Fernandez, Carlos, additional, Damasceno, Daniela, additional, Mayado, Andrea, additional, Barrena, Susana, additional, and Orfao, Alberto, additional

Published
2019
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38. Chromatin regulation by Histone H4 acetylation at Lysine 16 during cell death and differentiation in the myeloid compartment

Author

Urdinguio, Rocio G, primary, Lopez, Virginia, additional, Bayón, Gustavo F, additional, Diaz de la Guardia, Rafael, additional, Sierra, Marta I, additional, García-Toraño, Estela, additional, Perez, Raúl F, additional, García, María G, additional, Carella, Antonella, additional, Pruneda, Patricia C, additional, Prieto, Cristina, additional, Dmitrijeva, Marija, additional, Santamarina, Pablo, additional, Belmonte, Thalía, additional, Mangas, Cristina, additional, Diaconu, Elena, additional, Ferrero, Cecilia, additional, Tejedor, Juan Ramón, additional, Fernandez-Morera, Juan Luis, additional, Bravo, Cristina, additional, Bueno, Clara, additional, Sanjuan-Pla, Alejandra, additional, Rodriguez, Ramon M, additional, Suarez-Alvarez, Beatriz, additional, López-Larrea, Carlos, additional, Bernal, Teresa, additional, Colado, Enrique, additional, Balbín, Milagros, additional, García-Suarez, Olivia, additional, Chiara, María Dolores, additional, Sáenz-de-Santa-María, Inés, additional, Rodríguez, Francisco, additional, Pando-Sandoval, Ana, additional, Rodrigo, Luis, additional, Santos, Laura, additional, Salas, Ana, additional, Vallejo-Díaz, Jesús, additional, C. Carrera, Ana, additional, Rico, Daniel, additional, Hernández-López, Inmaculada, additional, Vayá, Amparo, additional, Ricart, José M, additional, Seto, Edward, additional, Sima-Teruel, Núria, additional, Vaquero, Alejandro, additional, Valledor, Luis, additional, Cañal, Maria Jesus, additional, Pisano, David, additional, Graña-Castro, Osvaldo, additional, Thomas, Tim, additional, Voss, Anne K, additional, Menéndez, Pablo, additional, Villar-Garea, Ana, additional, Deutzmann, Rainer, additional, Fernandez, Agustín F, additional, and Fraga, Mario F, additional

Published
2019
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39. Development of an algorithm for the identification of leukemic hematolymphoid neoplasms in Primary Care patients.

Author

Quirós, Covadonga, Fonseca, Ariana, Alonso-Álvarez, Sara, Moro-García, Marco Antonio, Alonso-Arias, Rebeca, Morais, Lucía-Rita, Álvarez-Menendez, Francisco V., and Colado, Enrique

Subjects
PRIMARY care, ALGORITHMS, PATIENT care, CELL populations, LYMPHOCYTE count
Abstract

Diagnosis of hematolymphoid neoplasm (HLN) requires different technologies which are performed on a patient basis instead of per protocol. We hypothesize that integration of hematimetric and cytological analysis along with multiparametric flow cytometry (MFC) provides a framework to evaluate peripheral blood (PB) samples from Primary Care. Samples from patients with persistent (>3 months) lymphocytosis (>5 × 109/L) and/or monocytosis (>109/L) or the presence of atypical and/or blast cells upon the smear review were analyzed by MFC concurrent to cytological analysis. MFC studies were carried out following standardized procedures. In a 3-year period, smear review and MFC were performed simultaneously in 350 samples, demonstrating HLN in 194 cases (55.4%). In 156 cases, reactive cell populations were found. The combination of age, absolute lymphocyte count (ALC), hemoglobin and platelets provided the best correlation with MFC for the presence of a chronic lymphoproliferative disorder (CLPD) in lymphocytosis [area under the curve (AUC) 0.891, p < 0.05]. A model evaluating the probability of CLPD has been proposed and validated in an independent cohort. A strategy to perform MFC studies following standardized procedures has proven to be useful to evaluate samples from patients in Primary Care centers for HLN diagnosis or reactive conditions, providing a sensitive and rapid clinical orientation and avoiding unnecessary consultations in routine clinical practice. The probability for the presence of CLPD in PB can be calculated and help guide decision-making regarding further testing. [ABSTRACT FROM AUTHOR]

Published
2021
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40. Chromatin regulation by Histone H4 acetylation at Lysine 16 during cell death and differentiation in the myeloid compartment

Author

European Commission, Instituto de Salud Carlos III, Fundación Científica Asociación Española Contra el Cáncer, Ministerio de Economía y Competitividad (España), Fundación Ramón Areces, Principado de Asturias, German Research Foundation, European Research Council, Asociación Española Contra el Cáncer, Fundación Fero, Fundación la Caixa, Josep Carreras Leukemia Foundation, Generalitat de Catalunya, Obra Social Cajastur, Urdinguio, Rocío G., López, Virginia, Bayón, Gustavo F., Díaz de la Guardia, Rafael, Sierra, Marta I., García-Toraño, Estela, Pérez, Raúl F., García, María G., Carella, Antonella, Pruneda, Patricia C., Prieto López, Cristina, Dmitrijeva, Marija, Santamarina-Ojeda, Pablo, Belmonte, Thalia, Mangas, Cristina, Diaconu, Elena, Ferrero, Cecilia, Tejedor, Juan Ramón, Fernández-Morera, Juan L., Bravo, Cristina, Bueno, Clara, Sanjuan-Pla, Alejandra, Rodríguez López, Ramón María, Suárez-Álvarez, Beatriz, López-Larrea, Carlos, Bernal, Teresa, Colado, Enrique, Balbín, Milagros, García-Suarez, Olivia, Chiara, María-Dolores, Sáenz-de-Santa-María, Inés, Rodríguez Hernández, Francisco José, Pando-Sandoval, Ana, Rodrigo, Luis, Santos, Laura, Salas, Ana, Vallejo-Díaz, Jesús, Carrera, Ana C., Rico, Daniel, Hernández-López, Inmaculada, Vayá, Amparo, Ricart, José M., Seto, Edward, Sima-Teruel, Núria, Vaquero, Alejandro, Valledor, Luis, Cañal, María Jesús, Pisano, David, Graña-Castro, Osvaldo, Thomas, Tim, Voss, Anne K., Menéndez, Pablo, Villar-Garea, Ana, Deutzmann, Rainer, Fernández, Agustín F., Fraga, Mario F., European Commission, Instituto de Salud Carlos III, Fundación Científica Asociación Española Contra el Cáncer, Ministerio de Economía y Competitividad (España), Fundación Ramón Areces, Principado de Asturias, German Research Foundation, European Research Council, Asociación Española Contra el Cáncer, Fundación Fero, Fundación la Caixa, Josep Carreras Leukemia Foundation, Generalitat de Catalunya, Obra Social Cajastur, Urdinguio, Rocío G., López, Virginia, Bayón, Gustavo F., Díaz de la Guardia, Rafael, Sierra, Marta I., García-Toraño, Estela, Pérez, Raúl F., García, María G., Carella, Antonella, Pruneda, Patricia C., Prieto López, Cristina, Dmitrijeva, Marija, Santamarina-Ojeda, Pablo, Belmonte, Thalia, Mangas, Cristina, Diaconu, Elena, Ferrero, Cecilia, Tejedor, Juan Ramón, Fernández-Morera, Juan L., Bravo, Cristina, Bueno, Clara, Sanjuan-Pla, Alejandra, Rodríguez López, Ramón María, Suárez-Álvarez, Beatriz, López-Larrea, Carlos, Bernal, Teresa, Colado, Enrique, Balbín, Milagros, García-Suarez, Olivia, Chiara, María-Dolores, Sáenz-de-Santa-María, Inés, Rodríguez Hernández, Francisco José, Pando-Sandoval, Ana, Rodrigo, Luis, Santos, Laura, Salas, Ana, Vallejo-Díaz, Jesús, Carrera, Ana C., Rico, Daniel, Hernández-López, Inmaculada, Vayá, Amparo, Ricart, José M., Seto, Edward, Sima-Teruel, Núria, Vaquero, Alejandro, Valledor, Luis, Cañal, María Jesús, Pisano, David, Graña-Castro, Osvaldo, Thomas, Tim, Voss, Anne K., Menéndez, Pablo, Villar-Garea, Ana, Deutzmann, Rainer, Fernández, Agustín F., and Fraga, Mario F.

Abstract

Histone H4 acetylation at Lysine 16 (H4K16ac) is a key epigenetic mark involved in gene regulation, DNA repair and chromatin remodeling, and though it is known to be essential for embryonic development, its role during adult life is still poorly understood. Here we show that this lysine is massively hyperacetylated in peripheral neutrophils. Genome-wide mapping of H4K16ac in terminally differentiated blood cells, along with functional experiments, supported a role for this histone post-translational modification in the regulation of cell differentiation and apoptosis in the hematopoietic system. Furthermore, in neutrophils, H4K16ac was enriched at specific DNA repeats. These DNA regions presented an accessible chromatin conformation and were associated with the cleavage sites that generate the 50 kb DNA fragments during the first stages of programmed cell death. Our results thus suggest that H4K16ac plays a dual role in myeloid cells as it not only regulates differentiation and apoptosis, but it also exhibits a non-canonical structural role in poising chromatin for cleavage at an early stage of neutrophil cell death.

Published
2019

41. Impact of measurable residual disease by decentralized flow cytometry: a PETHEMA real-world study in 1076 patients with acute myeloid leukemia

Author

Paiva, Bruno, Vidriales, María-Belen, Sempere, Amparo, Tarín, Fabián, Colado, Enrique, Benavente, Celina, Cedena, María-Teresa, Sánchez, Joaquín, Caballero-Velazquez, Teresa, Cordón, Lourdes, Garces, Juan-Jose, Simoes, Catia, Martínez-Cuadrón, David, Bernal, Teresa, Botella, Carmen, Grille, Sofia, Serrano, Josefina, Rodríguez-Medina, Carlos, Algarra, Lorenzo, Alonso-Domínguez, Juan-Manuel, Amigo, María-Luz, Barrios, Manuel, García-Boyero, Raimundo, Colorado, Mercedes, Pérez-Oteyza, Jaime, Pérez-Encinas, Manuel, Costilla-Barriga, Lisette, Sayas, María-José, Pérez, Olga, González-Díaz, Marcos, Pérez-Simón, José A., Martínez-López, Joaquín, Sossa, Claudia, Orfao, Alberto, San Miguel, Jesús F., Sanz, Miguel-Ángel, and Montesinos, Pau

Abstract

The role of decentralized assessment of measurable residual disease (MRD) for risk stratification in acute myeloid leukemia (AML) remains largely unknown, and so it does which methodological aspects are critical to empower the evaluation of MRD with prognostic significance, particularly if using multiparameter flow cytometry (MFC). We analyzed 1076 AML patients in first remission after induction chemotherapy, in whom MRD was evaluated by MFC in local laboratories of 60 Hospitals participating in the PETHEMA registry. We also conducted a survey on technical aspects of MRD testing to determine the impact of methodological heterogeneity in the prognostic value of MFC. Our results confirmed the recommended cutoff of 0.1% to discriminate patients with significantly different cumulative-incidence of relapse (-CIR- HR:0.71, P< 0.001) and overall survival (HR: 0.73, P= 0.001), but uncovered the limited prognostic value of MFC based MRD in multivariate and recursive partitioning models including other clinical, genetic and treatment related factors. Virtually all aspects related with methodological, interpretation, and reporting of MFC based MRD testing impacted in its ability to discriminate patients with different CIR. Thus, this study demonstrated that “real-world” assessment of MRD using MFC is prognostic in patients at first remission, and urges greater standardization for improved risk-stratification toward clinical decisions in AML.

Published
2021
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42. Bromodomain protein BRD4 is an epigenetic activator of B7-H6 expression in acute myeloid leukemia.

Author

Raneros, Aroa Baragaño, Rodriguez, Ramon M., Flórez, Aida Bernardo, Palomo, Pilar, Colado, Enrique, Minguela, Alfredo, Suarez-Alvarez, Beatriz, and López-Larrea, Carlos

Subjects
ACUTE myeloid leukemia, RNA polymerase II, AZACITIDINE, HISTONE acetylation, GENE enhancers, EPIGENETICS
Abstract

B7-H6, a ligand for the NK activating receptor NKp30, has been identified as a biomarker of poor prognosis in several solid cancers. However, little is known about the role of B7-H6 and the mechanisms that control its expression in acute myeloid leukemia (AML). Epigenome modulation, including epigenomic reader dysregulation, is one of the hallmarks of AML. Bromodomain-containing protein 4 (BRD4), the best-known member of the BET family of epigenetic readers, is overexpressed in AML cells and regulates the transcription of genes involved in the pathogenesis of AML, as MYC oncogene. Here, we analyze the role of BRD4 in regulating B7-H6 in AML cells. Results demonstrated that the specific inhibition of BRD4 drastically reduces the expression of B7-H6 in AML cells. Histone acetylation mediated by CBP30/P300 facilitates the binding of BRD4 to the B7-H6 promoter, which recruits the P-TEFb elongation factor that phosphorylates RNA polymerase II, thereby activating B7-H6 transcription. BRD4 also co-bounded with JMJD6 at the distal enhancer of the B7-H6 gene. Metabolic modulation with metformin modifies the acetylation pattern in the B7-H6 promoter, impairing BRD4 binding, thereby inhibiting B7-H6 expression. B7-H6 knockdown induces the apoptosis in HEL-R cell line. Moreover, a high level of B7-H6 expression in AML patients is related to increased BRD4 levels, myelodysplastic-derived AML, and del5q, the two latter being associated with poor prognosis. Our data show that BRD4 is a positive regulator of the pro-tumorigenic molecule B7-H6 and that the blockage of the B7-H6 is a potential therapeutic target for the treatment of AML. [ABSTRACT FROM AUTHOR]

Published
2021
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43. Prognostic Value of Minimal Residual Disease before Allogeneic Hematopoietic Stem Cell Transplantation in Patients with Acute Myeloid Leukemia

Author

Pérez-López, Olga, primary, Caballero-Velázquez, Teresa, additional, Colado, Enrique, additional, Alonso, Sara, additional, González-Campos, José, additional, Prats-Martín, Concepción, additional, Rodríguez-Torres, Nancy, additional, Escamilla Gomez, Virginia, additional, Espigado, Ildefonso, additional, and Pérez-Simón, Jose Antonio, additional

Published
2018
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44. Mutations in the RAS-BRAF-MAPK-ERK pathway define a specific subgroup of patients with adverse clinical features and provide new therapeutic options in chronic lymphocytic leukemia

Author

Giménez, Neus, primary, Martínez-Trillos, Alejandra, additional, Montraveta, Arnau, additional, Lopez-Guerra, Mónica, additional, Rosich, Laia, additional, Nadeu, Ferran, additional, Valero, Juan G., additional, Aymerich, Marta, additional, Magnano, Laura, additional, Rozman, Maria, additional, Matutes, Estella, additional, Delgado, Julio, additional, Baumann, Tycho, additional, Gine, Eva, additional, González, Marcos, additional, Alcoceba, Miguel, additional, Terol, M. José, additional, Navarro, Blanca, additional, Colado, Enrique, additional, Payer, Angel R., additional, Puente, Xose S., additional, López-Otín, Carlos, additional, Lopez-Guillermo, Armando, additional, Campo, Elias, additional, Colomer, Dolors, additional, and Villamor, Neus, additional

Published
2018
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45. Correction: Increasing TIMP3 expression by hypomethylating agents diminishes soluble MICA, MICB and ULBP2 shedding in acute myeloid leukemia, facilitating NK cell-mediated immune recognition

Author

Raneros, Aroa Baragaño, primary, Minguela, Alfredo, additional, Rodriguez, Ramon M., additional, Colado, Enrique, additional, Bernal, Teresa, additional, Anguita, Eduardo, additional, Mogorron, Adela Vasco, additional, Gil, Alberto Chaparro, additional, Vidal-Castiñeira, Jose Ramon, additional, Márquez-Kisinousky, Leonardo, additional, Bulnes, Paula Díaz, additional, Marin, Amelia Martinez, additional, García Garay, Maria Carmen, additional, Suarez-Alvarez, Beatriz, additional, and Lopez-Larrea, Carlos, additional

Published
2018
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47. Basophil-lineage commitment in acute promyelocytic leukemia predicts for severe bleeding after starting therapy

Author

Fundación Científica Asociación Española Contra el Cáncer, Fundación Rafael del Pino, Centro de Investigación Biomédica en Red Cáncer (España), Instituto de Salud Carlos III, Matarraz, Sergio, Leoz, Pilar, Fernández, Carlos, Colado, Enrique, Chillón, M. del Carmen, Vidriales, Maria Belén, González, Marcos, Rivera, Daniel, Osuna, Carlos Salvador, Caballero-Velázquez, Teresa, Velden, Vincent H. J. van der, Jongen-Lavrencic, Mojca, Gutierrez, Olivier, Yeguas Bermejo, Ana, García Alonso, Luis, Bourgeois García, Monique, Ramón, Cristina de, García-Donas, Gloria, García Mateo, Aránzazu, Recio, Isabel, Sánchez-Real, Javier, Mayado, Andrea, Gutiérrez, María Laura, Bárcena, Paloma, Barrena, Susana, López, Antonio, Dongen, J. J. M. van, Orfao, Alberto, Fundación Científica Asociación Española Contra el Cáncer, Fundación Rafael del Pino, Centro de Investigación Biomédica en Red Cáncer (España), Instituto de Salud Carlos III, Matarraz, Sergio, Leoz, Pilar, Fernández, Carlos, Colado, Enrique, Chillón, M. del Carmen, Vidriales, Maria Belén, González, Marcos, Rivera, Daniel, Osuna, Carlos Salvador, Caballero-Velázquez, Teresa, Velden, Vincent H. J. van der, Jongen-Lavrencic, Mojca, Gutierrez, Olivier, Yeguas Bermejo, Ana, García Alonso, Luis, Bourgeois García, Monique, Ramón, Cristina de, García-Donas, Gloria, García Mateo, Aránzazu, Recio, Isabel, Sánchez-Real, Javier, Mayado, Andrea, Gutiérrez, María Laura, Bárcena, Paloma, Barrena, Susana, López, Antonio, Dongen, J. J. M. van, and Orfao, Alberto

Abstract

Severe hemorrhagic events occur in a significant fraction of acute promyelocytic leukemia patients, either at presentation and/or early after starting therapy, leading to treatment failure and early deaths. However, identification of independent predictors for high-risk of severe bleeding at diagnosis, remains a challenge. Here, we investigated the immunophenotype of bone marrow leukemic cells from 109 newly diagnosed acute promyelocytic leukemia patients, particularly focusing on the identification of basophil-related features, and their potential association with severe bleeding episodes and patient overall survival. From all phenotypes investigated on leukemic cells, expression of the CD203c and/or CD22 basophil-associated markers showed the strongest association with the occurrence and severity of bleeding (p ≤ 0.007); moreover, aberrant expression of CD7, coexpression of CD34+/CD7+ and lack of CD71 was also more frequently found among patients with (mild and severe) bleeding at baseline and/or after starting treatment (p ≤ 0.009). Multivariate analysis showed that CD203c expression (hazard ratio: 26.4; p = 0.003) and older age (hazard ratio: 5.4; p = 0.03) were the best independent predictors for cumulative incidence of severe bleeding after starting therapy. In addition, CD203c expression on leukemic cells (hazard ratio: 4.4; p = 0.01), low fibrinogen levels (hazard ratio: 8.8; p = 0.001), older age (hazard ratio: 9.0; p = 0.002), and high leukocyte count (hazard ratio: 5.6; p = 0.02) were the most informative independent predictors for overall survival. In summary, our results show that the presence of basophil-associated phenotypic characteristics on leukemic cells from acute promyelocytic leukemia patients at diagnosis is a powerful independent predictor for severe bleeding and overall survival, which might contribute in the future to (early) risk-adapted therapy decisions.

Published
2018

48. Chromatin regulation by Histone H4 acetylation at Lysine 16 during cell death and differentiation in the myeloid compartment

Author

European Commission, Urdinguio, Rocío G., López, Virginia, Bayón, Gustavo F., Díaz de la Guardia, Rafael, Sierra, Marta I., García-Toraño, Estela, Pérez, Raúl F., García, María G., Carella, Antonella, Pruneda, Patricia C., Prieto López, Cristina, Dmitrijeva, Marija, Santamarina-Ojeda, Pablo, Belmonte, Thalia, Mangas, Cristina, Diaconu, Elena, Ferrero, Cecilia, Tejedor, Juan Ramón, Fernández-Morera, Juan L., Bravo, Cristina, Bueno, Clara, Sanjuan-Pla, Alejandra, Rodríguez López, Ramón María, Suárez-Álvarez, Beatriz, López-Larrea, Carlos, Bernal, Teresa, Colado, Enrique, Balbín, Milagros, García-Suarez, Olivia, Chiara, María-Dolores, Sáenz-de-Santa-María, Inés, Rodríguez Hernández, Francisco José, Pando-Sandoval, Ana, Rodrigo, Luis, Santos, Laura, Salas, Ana, Vallejo-Díaz, Jesús, Carrera, Ana C., Rico, Daniel, Hernández-López, Inmaculada, Vayá, Amparo, Ricart, José M., Seto, Edward, Sima-Teruel, Núria, Vaquero, Alejandro, Valledor, Luis, Cañal, María Jesús, Pisano, David, Graña-Castro, Osvaldo, Thomas, Tim, Voss, Anne K., Menéndez, Pablo, Villar-Garea, Ana, Deutzmann, Rainer, Fernández, Agustín F., Fraga, Mario F., European Commission, Urdinguio, Rocío G., López, Virginia, Bayón, Gustavo F., Díaz de la Guardia, Rafael, Sierra, Marta I., García-Toraño, Estela, Pérez, Raúl F., García, María G., Carella, Antonella, Pruneda, Patricia C., Prieto López, Cristina, Dmitrijeva, Marija, Santamarina-Ojeda, Pablo, Belmonte, Thalia, Mangas, Cristina, Diaconu, Elena, Ferrero, Cecilia, Tejedor, Juan Ramón, Fernández-Morera, Juan L., Bravo, Cristina, Bueno, Clara, Sanjuan-Pla, Alejandra, Rodríguez López, Ramón María, Suárez-Álvarez, Beatriz, López-Larrea, Carlos, Bernal, Teresa, Colado, Enrique, Balbín, Milagros, García-Suarez, Olivia, Chiara, María-Dolores, Sáenz-de-Santa-María, Inés, Rodríguez Hernández, Francisco José, Pando-Sandoval, Ana, Rodrigo, Luis, Santos, Laura, Salas, Ana, Vallejo-Díaz, Jesús, Carrera, Ana C., Rico, Daniel, Hernández-López, Inmaculada, Vayá, Amparo, Ricart, José M., Seto, Edward, Sima-Teruel, Núria, Vaquero, Alejandro, Valledor, Luis, Cañal, María Jesús, Pisano, David, Graña-Castro, Osvaldo, Thomas, Tim, Voss, Anne K., Menéndez, Pablo, Villar-Garea, Ana, Deutzmann, Rainer, Fernández, Agustín F., and Fraga, Mario F.

Abstract

Histone H4 acetylation at Lysine 16 (H4K16ac) is a key epigenetic mark involved in gene regulation, DNA repair and chromatin remodeling, and though it is known to be essential for embryonic development, its role during adult life is still poorly understood. Here we show that this lysine is massively hyperacetylated in peripheral neutrophils. Genome-wide mapping of H4K16ac in terminally differentiated blood cells, along with functional experiments, supported a role for this histone post-translational modification in the regulation of cell differentiation and apoptosis in the hematopoietic system. Furthermore, in neutrophils, H4K16ac was enriched at specific DNA repeats. These DNA regions presented an accessible chromatin conformation and were associated with the cleavage sites that generate the 50 kb DNA fragments during the first stages of programmed cell death. Our results thus suggest that H4K16ac plays a dual role in myeloid cells as it not only regulates differentiation and apoptosis, but it also exhibits a non-canonical structural role in poising chromatin for cleavage at an early stage of neutrophil cell death.

Published
2018

49. Diagnostic screening of paroxysmal nocturnal hemoglobinuria: Prospective multicentric evaluation of the current medical indications

Author

Morado, Morado, Sandes, Alex F., Colado, Enrique, Subirá, Dolores, Isusi, Paloma, Noya, María Soledad, Vidriales, Maria Belén, Sempere, Amparo, Díaz, José Ángel, Minguela, Alfredo, Álvarez, Beatriz, Serrano, Cristina, Caballero-Velázquez, Teresa, Rey, Mercedes, Pérez Corral, Ana, Fernández Jiménez, María Crsitina, Magro, Elena, Lemes, Angelina, Benavente, Cecilia, Bañas, Helena, Merino, Juana, Castejon, Celine, Gutierrez, Olivier, Rabasa, Pilar, Vescovi Gonçalves, Matheus, Pérez-Andrés, Martin, and Orfao, Alberto

Subjects
Male, Erythrocytes, Hemoglobinuria, Paroxysmal, Anemia, Aplastic, Hematology, Flow Cytometry, Standardization, Myelodysplastic Syndromes, hemic and lymphatic diseases, Fluorescence cytometry, Prevalence, Humans, Female, Prospective Studies, Flow cytometry, Myelodysplastic syndrome, Retrospective Studies
Abstract

On behalf of the PNH working group of the Iberian Society of Cytometry (SIC)., [Background]: Although consensus guidelines have been proposed in 2010 for the diagnostic screening of paroxysmal nocturnal hemoglobinuria (PNH) by flow cytometry (FCM), so far no study has investigated the efficiency of such medical indications in multicentric vs. reference laboratory settings. [Methods]: Here we evaluate the efficiency of consensus medical indications for PNH testing in 3,938 peripheral blood samples submitted to FCM testing in 24 laboratories in Spain and one reference center in Brazil. [Results]: Overall, diagnostic screening based on consensus medical indications was highly efficient (14% of PNH samples) both in the multicenter setting in Spain (10%) and the reference laboratory in Brazil (16%). The highest frequency of PNH cases was observed among patients screened because of bone marrow (BM) failure syndrome (33%), particularly among those with aplastic anemia (AA; 45%) and to a less extent also a myelodysplastic syndrome (MDS; 10%). Among the other individuals studied, the most efficient medical indications for PNH screening included: hemolytic anemia (19%), hemoglobinuria (48%) and unexplained cytopenias (9%). In contrast, only a minor fraction of the patients who had been submitted for PNH testing because of unexplained thrombosis in the absence of cytopenia, were positive (0.4%). [Conclusions]: In summary, our results demonstrate that the current medical indications for PNH screening by FCM are highly efficient, although improved screening algorithms are needed for patients presenting with thrombosis and normal blood cell counts.

Published
2017

50. The mutational landscape of small lymphocytic lymphoma compared to non-early stage chronic lymphocytic leukemia

Author

Martínez-Trillos, Alejandra, primary, Pinyol, Magda, additional, Delgado, Julio, additional, Aymerich, Marta, additional, Rozman, Maria, additional, Baumann, Tycho, additional, González-Díaz, Marcos, additional, Hernández, Jesus M, additional, Alcoceba, Miguel, additional, Muntañola, Anna, additional, Terol, Maria José, additional, Navarro, Blanca, additional, Giné, Eva, additional, Jares, Pedro, additional, Beà, Sílvia, additional, Navarro, Alba, additional, Colomer, Dolors, additional, Nadeu, Ferran, additional, Colado, Enrique, additional, Payer, Angel R., additional, García-Cerecedo, Tomás, additional, Puente, Xosé S., additional, López-Otin, Carlos, additional, Campo, Elias, additional, López-Guillermo, Armando, additional, and Villamor, Neus, additional

Published
2017
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