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297 results on '"Rapado, Inmaculada"'

1. Real-life disease monitoring in follicular lymphoma patients using liquid biopsy ultra-deep sequencing and PET/CT

Author

Jiménez-Ubieto, Ana, Poza, María, Martin-Muñoz, Alejandro, Ruiz-Heredia, Yanira, Dorado, Sara, Figaredo, Gloria, Rosa-Rosa, Juan Manuel, Rodriguez, Antonia, Barcena, Carmen, Navamuel, Laura Parrilla, Carrillo, Jaime, Sanchez, Ricardo, Rufian, Laura, Juárez, Alexandra, Rodriguez, Margarita, Wang, Chongwu, de Toledo, Paula, Grande, Carlos, Mollejo, Manuela, Casado, Luis-Felipe, Calbacho, María, Baumann, Tycho, Rapado, Inmaculada, Gallardo, Miguel, Sarandeses, Pilar, Ayala, Rosa, Martínez-López, Joaquín, and Barrio, Santiago

Published
2023
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2. Different prognostic impact of recurrent gene mutations in chronic lymphocytic leukemia depending on IGHV gene somatic hypermutation status: a study by ERIC in HARMONY

Author

Mansouri, Larry, Thorvaldsdottir, Birna, Sutton, Lesley-Ann, Karakatsoulis, Georgios, Meggendorfer, Manja, Parker, Helen, Nadeu, Ferran, Brieghel, Christian, Laidou, Stamatia, Moia, Riccardo, Rossi, Davide, Catherwood, Mark, Kotaskova, Jana, Delgado, Julio, Rodríguez-Vicente, Ana E., Benito, Rocío, Rigolin, Gian Matteo, Bonfiglio, Silvia, Scarfo, Lydia, Mattsson, Mattias, Davis, Zadie, Gogia, Ajay, Rani, Lata, Baliakas, Panagiotis, Foroughi-Asl, Hassan, Jylhä, Cecilia, Skaftason, Aron, Rapado, Inmaculada, Miras, Fatima, Martinez-Lopez, Joaquín, de la Serna, Javier, Rivas, Jesús María Hernández, Thornton, Patrick, Larráyoz, María José, Calasanz, María José, Fésüs, Viktória, Mátrai, Zoltán, Bödör, Csaba, Smedby, Karin E., Espinet, Blanca, Puiggros, Anna, Gupta, Ritu, Bullinger, Lars, Bosch, Francesc, Tazón-Vega, Bárbara, Baran-Marszak, Fanny, Oscier, David, Nguyen-Khac, Florence, Zenz, Thorsten, Terol, Maria Jose, Cuneo, Antonio, Hernández-Sánchez, María, Pospisilova, Sarka, Mills, Ken, Gaidano, Gianluca, Niemann, Carsten U., Campo, Elias, Strefford, Jonathan C., Ghia, Paolo, Stamatopoulos, Kostas, and Rosenquist, Richard

Published
2023
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3. Standardization of molecular monitoring of CML: results and recommendations from the European treatment and outcome study

Author

White, Helen E., Salmon, Matthew, Albano, Francesco, Andersen, Christina Søs Auður, Balabanov, Stefan, Balatzenko, Gueorgui, Barbany, Gisela, Cayuela, Jean-Michel, Cerveira, Nuno, Cochaux, Pascale, Colomer, Dolors, Coriu, Daniel, Diamond, Joana, Dietz, Christian, Dulucq, Stéphanie, Engvall, Marie, Franke, Georg N., Gineikiene-Valentine, Egle, Gniot, Michal, Gómez-Casares, María Teresa, Gottardi, Enrico, Hayden, Chloe, Hayette, Sandrine, Hedblom, Andreas, Ilea, Anca, Izzo, Barbara, Jiménez-Velasco, Antonio, Jurcek, Tomas, Kairisto, Veli, Langabeer, Stephen E., Lion, Thomas, Meggyesi, Nora, Mešanović, Semir, Mihok, Luboslav, Mitterbauer-Hohendanner, Gerlinde, Moeckel, Sylvia, Naumann, Nicole, Nibourel, Olivier, Oppliger Leibundgut, Elisabeth, Panayiotidis, Panayiotis, Podgornik, Helena, Pott, Christiane, Rapado, Inmaculada, Rose, Susan J., Schäfer, Vivien, Touloumenidou, Tasoula, Veigaard, Christopher, Venniker-Punt, Bianca, Venturi, Claudia, Vigneri, Paolo, Vorkinn, Ingvild, Wilkinson, Elizabeth, Zadro, Renata, Zawada, Magdalena, Zizkova, Hana, Müller, Martin C., Saussele, Susanne, Ernst, Thomas, Machova Polakova, Katerina, Hochhaus, Andreas, and Cross, Nicholas C. P.

Published
2022
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4. Real-World Impact of Deep Targeted Sequencing on Erythrocytosis and Thrombocytosis Diagnosis: A Reference Centre Experience.

Author

Blanco-Sánchez, Alberto, Gil-Manso, Rodrigo, de Nicolás, Rodrigo, López-Muñoz, Nieves, Colmenares, Rafael, Mas, Reyes, Sánchez, Ricardo, Rapado, Inmaculada, Martínez-López, Joaquín, Díaz, Rosa Ayala, and Carreño-Tarragona, Gonzalo

Abstract

Simple Summary: Around 70% of cases of erythrocytosis are categorised as "idiopathic" after excluding secondary causes and polycythaemia vera. A similar situation arises in the setting of thrombocytosis, with even a 15% of essential thrombocythemia lacking canonical mutations. Previous studies have shown that a deeper investigation of these patients can unmask underlying primary conditions (such as familial disorders or a clonal disease without canonical mutations). The role of next-generation sequencing (NGS) in their diagnosis has been explored in a retrospective manner, showing promising results. In this study, we reviewed the impact of NGS performed in our centre on the diagnosis of erythrocytosis and thrombocytosis (117 and 58 patients, respectively). Our findings showed that few patients benefited from this test, since only 11.9% and 25.9% showed a variant leading to diagnosis of a primary disorder, respectively. However, we believe that this yield could be improved through a better selection prior to NGS. Despite advances in diagnosis of erythrocytosis and thrombocytosis due to driver mutation testing, many cases remain classified as "idiopathic". This can be explained by the absence of an evident secondary cause, inconclusive bone marrow biopsy or neglection of family history. Analysis of a broad panel of genes through next-generation sequencing (NGS) could improve diagnostic work-up identifying underlying genetic causes. We reviewed the results of NGS performed in our laboratory and its diagnostic impact on 117 patients with unexplained erythrocytosis and 58 with unexplained thrombocytosis; six patients (5.1%) were diagnosed with polycythaemia vera (PV) and 8 (6.8%) with familial erythrocytosis after NGS testing. Low EPO and a family history seemed to predict a positive result, respectively. However, a greater percentage of patients were ultimately diagnosed with secondary erythrocytosis (36%), remained as idiopathic (28.2%) or were self-limited (15%). The yield of NGS was shown to be slightly higher in patients with thrombocytosis, as 15 (25.9%) were diagnosed with essential thrombocythemia (ET) or familial thrombocytosis after variant detection; previous research has shown similar results, but most of them carried out NGS retrospectively, while the present study exhibits the performance of this test in a real-world setting. Overall, the low rate of variant detection and its poor impact on diagnostic work-up highlights the need for a thorough screening prior to NGS, in order to improve its yield. [ABSTRACT FROM AUTHOR]

Published
2024
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6. Correction: Different prognostic impact of recurrent gene mutations in chronic lymphocytic leukemia depending on IGHV gene somatic hypermutation status: a study by ERIC in HARMONY

Author

Mansouri, Larry, Thorvaldsdottir, Birna, Sutton, Lesley-Ann, Karakatsoulis, Georgios, Meggendorfer, Manja, Parker, Helen, Nadeu, Ferran, Brieghel, Christian, Laidou, Stamatia, Moia, Riccardo, Rossi, Davide, Catherwood, Mark, Kotaskova, Jana, Delgado, Julio, Rodríguez-Vicente, Ana E., Benito, Rocío, Rigolin, Gian Matteo, Bonfiglio, Silvia, Scarfo, Lydia, Mattsson, Mattias, Davis, Zadie, Gogia, Ajay, Rani, Lata, Baliakas, Panagiotis, Foroughi-Asl, Hassan, Jylhä, Cecilia, Skaftason, Aron, Rapado, Inmaculada, Miras, Fatima, Martinez-Lopez, Joaquín, de la Serna, Javier, Rivas, Jesús María Hernández, Thornton, Patrick, Larráyoz, María José, Calasanz, María José, Fésüs, Viktória, Mátrai, Zoltán, Bödör, Csaba, Smedby, Karin E., Espinet, Blanca, Puiggros, Anna, Gupta, Ritu, Bullinger, Lars, Bosch, Francesc, Tazón-Vega, Bárbara, Baran-Marszak, Fanny, Oscier, David, Nguyen-Khac, Florence, Zenz, Thorsten, Terol, Maria Jose, Cuneo, Antonio, Hernández-Sánchez, María, Pospisilova, Sarka, Mills, Ken, Gaidano, Gianluca, Niemann, Carsten U., Campo, Elias, Strefford, Jonathan C., Ghia, Paolo, Stamatopoulos, Kostas, and Rosenquist, Richard

Published
2023
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7. Monitoring of clonal evolution of acute myeloid leukemia identifies the leukemia subtype, clinical outcome and potential new drug targets for post-remission strategies or relapse

Author

Onecha, Esther, Rapado, Inmaculada, Morales, Maria Luz, Carreño-Tarragona, Gonzalo, Martínez-Sánchez, Pilar, Gutiérrez, Xavier, Sánchez Pina, José María, Linares Gómez, María, Gallardo, Miguel, Martínez López, Joaquín, Ayala Díaz, Rosa María, Onecha, Esther, Rapado, Inmaculada, Morales, Maria Luz, Carreño-Tarragona, Gonzalo, Martínez-Sánchez, Pilar, Gutiérrez, Xavier, Sánchez Pina, José María, Linares Gómez, María, Gallardo, Miguel, Martínez López, Joaquín, and Ayala Díaz, Rosa María

Abstract

In cases of treatment failure in acute myeloid leukemia (AML), the utility of mutational profiling in primary refractoriness and relapse is not established. We undertook a perspective study using next-generation sequencing (NGS) of clinical follow-up samples (n=91) from 23 patients with AML with therapeutic failure to cytarabine plus idarubicin or fludarabine. Cases of primary refractoriness to treatment were associated with a lower number of DNA variants at diagnosis than cases of relapse (median 1.67 and 3.21, respectively, p=0.029). The most frequently affected pathways in patients with primary refractoriness were signaling, transcription and tumor suppression, whereas methylation and splicing pathways were mainly implicated in relapsed patients. New therapeutic targets, either by an approved drug or within clinical trials, were not identified in any of the cases of refractoriness (0/10); however, 8 potential new targets were found in 5 relapsed patients (5/13) (p=0.027): 1 IDH2, 3 SF3B1, 2 KRAS, 1 KIT and 1 JAK2. Sixty-five percent of all variants detected at diagnosis were not detected at complete response (CR). Specifically, 100% of variants in EZH2, RUNX1, VHL, FLT3, ETV6, U2AF1, PHF6 and SF3B1 disappeared at CR, indicating their potential use as markers to evaluate minimal residual disease (MRD) for follow-up of AML. Molecular follow-up using a custom NGS myeloid panel of 32 genes in the post-treatment evaluation of AML can help in the stratification of prognostic risk, the selection of MRD markers to monitor the response to treatment and guide post-remission strategies targeting AML, and the selection of new drugs for leukemia relapse., Instituto de Salud Carlos III, CRIS against Cancer foundation, Spanish Ministry of Economy and Competitiveness, Depto. de Bioquímica y Biología Molecular, Fac. de Farmacia, TRUE, pub

Published
2024

8. Concurrent progressive multifocal leukoencephalopathy and central nervous system infiltration by multiple myeloma: A case report

Author

Ruiz-Heredia, Yanira, Sánchez-Vega, Beatriz, Barrio, Santiago, Linares Gómez, María, Rapado, Inmaculada, Braggio, Esteban, Stewart, Keith, Folgueira, M Dolores, Ramos, Ana, Collado, Luis, Ruiz, Juan, Toldos, Oscar, Hernández Laín, Aurelio, Joaquín Martínez-López, Ruiz-Heredia, Yanira, Sánchez-Vega, Beatriz, Barrio, Santiago, Linares Gómez, María, Rapado, Inmaculada, Braggio, Esteban, Stewart, Keith, Folgueira, M Dolores, Ramos, Ana, Collado, Luis, Ruiz, Juan, Toldos, Oscar, Hernández Laín, Aurelio, and Joaquín Martínez-López

Abstract

Progressive multifocal leukoencephalopathy rarely occurs in patients with multiple myeloma. Intracranial central nervous system invasion is also an uncommon event in multiple myeloma, occurring in less than 1% of cases. We describe herein an exceptional case of coexisting progressive multifocal leukoencephalopathy and intraparenchymal central nervous system myeloma infiltration. A 73-year-old woman with relapsed multiple myeloma was treated with 15 cycles of lenalidomide and dexamethasone, but therapy had to be stopped because of a hip fracture after a fall. During hospitalization, the patient developed progressive multifocal leukoencephalopathy caused by John Cunningham virus, and a prominent intra-parenchymal CD138-positive infiltrate was detected. VDJ rearrangements of the immunoglobulin heavy chain gene and the mutational profile of plasma cells in bone marrow at the time of diagnosis and in brain biopsy after progression were analyzed by next generation sequencing, showing genetic differences between medullary and extramedullary myeloma cells. The role of long-term treatment with lenalidomide and dexamethasone in the development progressive multifocal leukoencephalopathy or intraparenchymal central nervous system myeloma infiltration remains unknown. However, our results suggest that both events may have arisen as a consequence of treatment-related immunosuppression. Thus, an appropriate clinical approach compatible with the simultaneous treatment of progressive multifocal leukoencephalopathy and multiple myeloma should be developed., Depto. de Bioquímica y Biología Molecular, Fac. de Farmacia, TRUE, pub

Published
2024

9. Improving the prediction of acute myeloid leukaemia outcomes by complementing mutational profiling with ex vivo chemosensitivity

Author

Onecha, Esther, Ruiz‐Heredia, Yanira, Martínez‐Cuadrón, David, Barragán, Eva, Martínez Sánchez, María Del Pilar, Linares Gómez, María, Rapado, Inmaculada, Perez‐Oteyza, Jaime, Magro, Elena, Herrera, Pilar, Rojas, José Luis, Gorrochategui, Julián, Villoria, Jesús, Boluda, Blanca, Sargas, Claudia, Ballesteros, Joan, Montesinos, Pau, Martínez López, Joaquín, Ayala Díaz, Rosa María, Onecha, Esther, Ruiz‐Heredia, Yanira, Martínez‐Cuadrón, David, Barragán, Eva, Martínez Sánchez, María Del Pilar, Linares Gómez, María, Rapado, Inmaculada, Perez‐Oteyza, Jaime, Magro, Elena, Herrera, Pilar, Rojas, José Luis, Gorrochategui, Julián, Villoria, Jesús, Boluda, Blanca, Sargas, Claudia, Ballesteros, Joan, Montesinos, Pau, Martínez López, Joaquín, and Ayala Díaz, Rosa María

Abstract

Refractoriness to induction therapy and relapse after complete remission are the leading causes of death in patients with acute myeloid leukaemia (AML). This study focussed on the prediction of response to standard induction therapy and outcome of patients with AML using a combined strategy of mutational profiling by next-generation sequencing (NGS, n = 190) and ex vivo PharmaFlow testing (n = 74) for the 10 most widely used drugs for AML induction therapy, in a cohort of adult patients uniformly treated according to Spanish PETHEMA guidelines. We identified an adverse mutational profile (EZH2, KMT2A, U2AF1 and/or TP53 mutations) that carries a greater risk of death [hazard ratio (HR): 3 29, P < 0 0001]. A high correlation was found between the ex vivo PharmaFlow results and clinical induction response (69%). Clinical correlation analysis showed that the pattern of multiresistance revealed by ex vivo PharmaFlow identified patients with a high risk of death (HR: 2 58). Patients with mutation status also ran a high risk (HR 4 19), and the risk was increased further in patients with both adverse profiles (HR 4 82). We have developed a new score based on NGS and ex vivo drug testing for AML patients that improves upon current prognostic risk stratification and allows clinicians to tailor treatments to minimise drug resistance., Instituto de Salud Carlos III, CRIS against Cancer foundation, Spanish Ministry of Economy and Competitiveness, Depto. de Bioquímica y Biología Molecular, Fac. de Farmacia, TRUE, pub

Published
2024

10. Detection of minimal residual disease in acute myeloid leukemia: evaluating utility and challenges.

Author

Álvarez, Noemí, Martín, Alejandro, Dorado, Sara, Colmenares, Rafael, Rufián, Laura, Rodríguez, Margarita, Giménez, Alicia, Carneros, Laura, Sanchez, Ricardo, Carreño, Gonzalo, Rapado, Inmaculada, Heredia, Yanira, Martínez-López, Joaquín, Barrio, Santiago, and Ayala, Rosa

Subjects
ACUTE myeloid leukemia, CELL-free DNA, BONE marrow, NUCLEOTIDE sequencing, FLOW cytometry
Abstract

This study discusses the importance of minimal residual disease (MRD) detection in acute myeloid leukemia (AML) patients using liquid biopsy and next-generation sequencing (NGS). AML prognosis is based on various factors, including genetic alterations. NGS has revealed the molecular complexity of AML and helped refine risk stratification and personalized therapies. The long-term survival rates for AML patients are low, and MRD assessment is crucial in predicting prognosis. Currently, the most common methods for MRD detection are flow cytometry and quantitative PCR, but NGS is being incorporated into clinical practice due to its ability to detect genomic aberrations in the majority of AML patients. Typically, bone marrow samples are used for MRD assessment, but using peripheral blood samples or liquid biopsies would be less invasive. Leukemia originates in the bone marrow, along with the cfDNA obtained from peripheral blood. This study aimed to assess the utility of cell-free DNA (cfDNA) from peripheral blood samples for MRD detection in AML patients. A cohort of 20 AML patients was analyzed using NGS, and a correlation between MRD assessment by cfDNA and circulating tumor cells (CTCs) in paired samples was observed. Furthermore, a higher tumor signal was detected in cfDNA compared to CTCs, indicating greater sensitivity. Challenges for the application of liquid biopsy in MRD assessment were discussed, including the selection of appropriate markers and the sensitivity of certain markers. This study emphasizes the potential of liquid biopsy using cfDNA for MRD detection in AML patients and highlights the need for further research in this area. [ABSTRACT FROM AUTHOR]

Published
2024
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11. Corrigendum: Personalized monitoring of circulating tumor DNA with a specific signature of trackable mutations after chimeric antigen receptor T-cell therapy in follicular lymphoma patients

Author

Jiménez-Ubieto, Ana, primary, Martín-Muñoz, Alejandro, additional, Poza, María, additional, Dorado, Sara, additional, García-Ortiz, Almudena, additional, Revilla, Enrique, additional, Sarandeses, Pilar, additional, Ruiz-Heredia, Yanira, additional, Baumann, Tycho, additional, Rodríguez, Antonia, additional, Calbacho, María, additional, Sánchez, Pilar Martínez, additional, Pina, José María Sánchez, additional, García-Sancho, Alejandro Martín, additional, Figaredo, Gloria, additional, Gil-Alós, Daniel, additional, Rufián, Laura, additional, Rodríguez, Margarita, additional, Carneros, Laura, additional, Martínez-Laperche, Carolina, additional, Bastos-Oreiro, Mariana, additional, Wang, Chongwu, additional, Cedena, María-Teresa, additional, Rapado, Inmaculada, additional, de Toledo, Paula, additional, Gallardo, Miguel, additional, Valeri, Antonio, additional, Ayala, Rosa, additional, Martínez-López, Joaquín, additional, and Barrio, Santiago, additional

Published
2024
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13. Corrigendum: Personalized monitoring of circulating tumor DNA with a specific signature of trackable mutations after chimeric antigen receptor T-cell therapy in follicular lymphoma patients

Author

Jiménez-Ubieto, Ana, primary, Martín-Muñoz, Alejandro, additional, Poza, María, additional, Dorado, Sara, additional, García-Ortiz, Almudena, additional, Revilla, Enrique, additional, Sarandeses, Pilar, additional, Ruiz-Heredia, Yanira, additional, Baumann, Tycho, additional, Rodríguez, Antonia, additional, Calbacho, María, additional, Sánchez, Pilar Martínez, additional, Pina, José María Sánchez, additional, García-Sancho, Alejandro Martín, additional, Figaredo, Gloria, additional, Rufián, Laura, additional, Rodríguez, Margarita, additional, Carneros, Laura, additional, Martínez-Laperche, Carolina, additional, Bastos-Oreiro, Mariana, additional, Wang, Chongwu, additional, Cedena, María-Teresa, additional, Rapado, Inmaculada, additional, de Toledo, Paula, additional, Gallardo, Miguel, additional, Valeri, Antonio, additional, Ayala, Rosa, additional, Martínez-López, Joaquín, additional, and Barrio, Santiago, additional

Published
2023
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14. P702: APPLICATION OF NEXT GENERATION SEQUENCING (NGS) FOR MINIMAL RESIDUAL DISEASE (MRD) AND CHIMERISM MONITORING IN MYELODYSPLASTIC SYNDROME (MDS) AFTER ALLOGENIC STEM CELL TRANSPLANTATION (ASCT)

Author

Zamanillo, Irene, primary, Barrio, Santiago, additional, Martin, Alejandro, additional, Dorado, Sara, additional, Heredia, Yanira, additional, Rodriguez, Margarita, additional, Rapado, Inmaculada, additional, Isabel Jimenez Ubieto, Ana, additional, Ayala Diaz, Rosa, additional, Martinez-Lopez, Joaquín, additional, and Teresa Cedena Romero, Maria, additional

Published
2023
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16. Analysis of SNP Array Abnormalities in Patients with DE NOVO Acute Myeloid Leukemia with Normal Karyotype

Author

Ibáñez, Mariam, Such, Esperanza, Onecha, Esther, Gómez-Seguí, Inés, Liquori, Alessandro, Sellés, Jorge, Hervás-Marín, David, Barragán, Eva, Ayala, Rosa, LLop, Marta, López-Pavía, María, Rapado, Inmaculada, Neef, Alex, Sanjuan-Pla, Alejandra, Sargas, Claudia, Gonzalez-Romero, Elisa, Boluda-Navarro, Mireia, Andreu, Rafa, Senent, Leonor, Montesinos, Pau, Martínez-López, Joaquín, Angel Sanz, Miguel, Sanz, Guillermo, and Cervera, José

Published
2020
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18. Personalized monitoring of circulating tumor DNA with a specific signature of trackable mutations after chimeric antigen receptor T-cell therapy in follicular lymphoma patients

Author

Jiménez-Ubieto, Ana, Martín-Muñoz, Alejandro, Poza, María, Dorado, Sara, García-Ortiz, Almudena, Revilla, Enrique, Sarandeses, Pilar, Ruiz-Heredia, Yanira, Baumann, Tycho, Rodríguez, Antonia, Calbacho, María, Sánchez, Pilar Martínez, Pina, José María Sánchez, García-Sancho, Alejandro Martín, Figaredo, Gloria, Rufián, Laura, Rodríguez, Margarita, Carneros, Laura, Martínez-Laperche, Carolina, Bastos-Oreiro, Mariana, Wang, Chongwu, Cedena, María-Teresa, Rapado, Inmaculada, de Toledo, Paula, Valeri, Antonio, Ayala, Rosa, Martínez-López, Joaquín, and Barrio, Santiago

Subjects
Immunology, Immunology and Allergy
Published
2023
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19. Different prognostic impact of recurrent gene mutations in chronic lymphocytic leukemia depending on IGHV gene somatic hypermutation status:a study by ERIC in HARMONY

Author

Mansouri, Larry, Thorvaldsdottir, Birna, Sutton, Lesley Ann, Karakatsoulis, Georgios, Meggendorfer, Manja, Parker, Helen, Nadeu, Ferran, Brieghel, Christian, Laidou, Stamatia, Moia, Riccardo, Rossi, Davide, Catherwood, Mark, Kotaskova, Jana, Delgado, Julio, Rodríguez-Vicente, Ana E., Benito, Rocío, Rigolin, Gian Matteo, Bonfiglio, Silvia, Scarfo, Lydia, Mattsson, Mattias, Davis, Zadie, Gogia, Ajay, Rani, Lata, Baliakas, Panagiotis, Foroughi-Asl, Hassan, Jylhä, Cecilia, Skaftason, Aron, Rapado, Inmaculada, Miras, Fatima, Martinez-Lopez, Joaquín, de la Serna, Javier, Rivas, Jesús María Hernández, Thornton, Patrick, Larráyoz, María José, Calasanz, María José, Fésüs, Viktória, Mátrai, Zoltán, Bödör, Csaba, Smedby, Karin E., Espinet, Blanca, Puiggros, Anna, Gupta, Ritu, Bullinger, Lars, Bosch, Francesc, Tazón-Vega, Bárbara, Baran-Marszak, Fanny, Oscier, David, Nguyen-Khac, Florence, Zenz, Thorsten, Terol, Maria Jose, Cuneo, Antonio, Hernández-Sánchez, María, Pospisilova, Sarka, Mills, Ken, Gaidano, Gianluca, Niemann, Carsten U., Campo, Elias, Strefford, Jonathan C., Ghia, Paolo, Stamatopoulos, Kostas, Rosenquist, Richard, Mansouri, Larry, Thorvaldsdottir, Birna, Sutton, Lesley Ann, Karakatsoulis, Georgios, Meggendorfer, Manja, Parker, Helen, Nadeu, Ferran, Brieghel, Christian, Laidou, Stamatia, Moia, Riccardo, Rossi, Davide, Catherwood, Mark, Kotaskova, Jana, Delgado, Julio, Rodríguez-Vicente, Ana E., Benito, Rocío, Rigolin, Gian Matteo, Bonfiglio, Silvia, Scarfo, Lydia, Mattsson, Mattias, Davis, Zadie, Gogia, Ajay, Rani, Lata, Baliakas, Panagiotis, Foroughi-Asl, Hassan, Jylhä, Cecilia, Skaftason, Aron, Rapado, Inmaculada, Miras, Fatima, Martinez-Lopez, Joaquín, de la Serna, Javier, Rivas, Jesús María Hernández, Thornton, Patrick, Larráyoz, María José, Calasanz, María José, Fésüs, Viktória, Mátrai, Zoltán, Bödör, Csaba, Smedby, Karin E., Espinet, Blanca, Puiggros, Anna, Gupta, Ritu, Bullinger, Lars, Bosch, Francesc, Tazón-Vega, Bárbara, Baran-Marszak, Fanny, Oscier, David, Nguyen-Khac, Florence, Zenz, Thorsten, Terol, Maria Jose, Cuneo, Antonio, Hernández-Sánchez, María, Pospisilova, Sarka, Mills, Ken, Gaidano, Gianluca, Niemann, Carsten U., Campo, Elias, Strefford, Jonathan C., Ghia, Paolo, Stamatopoulos, Kostas, and Rosenquist, Richard

Abstract

Recent evidence suggests that the prognostic impact of gene mutations in patients with chronic lymphocytic leukemia (CLL) may differ depending on the immunoglobulin heavy variable (IGHV) gene somatic hypermutation (SHM) status. In this study, we assessed the impact of nine recurrently mutated genes (BIRC3, EGR2, MYD88, NFKBIE, NOTCH1, POT1, SF3B1, TP53, and XPO1) in pre-treatment samples from 4580 patients with CLL, using time-to-first-treatment (TTFT) as the primary end-point in relation to IGHV gene SHM status. Mutations were detected in 1588 (34.7%) patients at frequencies ranging from 2.3–9.8% with mutations in NOTCH1 being the most frequent. In both univariate and multivariate analyses, mutations in all genes except MYD88 were associated with a significantly shorter TTFT. In multivariate analysis of Binet stage A patients, performed separately for IGHV-mutated (M-CLL) and unmutated CLL (U-CLL), a different spectrum of gene alterations independently predicted short TTFT within the two subgroups. While SF3B1 and XPO1 mutations were independent prognostic variables in both U-CLL and M-CLL, TP53, BIRC3 and EGR2 aberrations were significant predictors only in U-CLL, and NOTCH1 and NFKBIE only in M-CLL. Our findings underscore the need for a compartmentalized approach to identify high-risk patients, particularly among M-CLL patients, with potential implications for stratified management.

Published
2023

20. Different prognostic impact of recurrent gene mutations in chronic lymphocytic leukemia depending on IGHV gene somatic hypermutation status: a study by ERIC in HARMONY

Author

Associazione Italiana per la Ricerca sul Cancro, Ministero della Salute, Fundación la Caixa, American Association for Cancer Research, European Hematology Association, Lady Tata Memorial Trust, European Association for Cancer Research, Instituto de Salud Carlos III, Ministry of Innovation and Technology (Hungary), Università degli Studi di Ferrara, Associazione Italiana Contro le Leucemie - Linfomi e Mieloma, Danish Cancer Society Research Center, Cancer Research UK, Swedish Cancer Society, Swedish Research Council, Knut and Alice Wallenberg Foundation, Lions Cancerforskningsfond, Mansouri, Larry, Thorvaldsdottir, Birna, Sutton, Lesley-Ann, Karakatsoulis, Georgios, Meggendorfer, Manja, Parker, Helen, Nadeu, Ferran, Brieghel, Christian, Laidou, Stamatia, Moia, Riccardo, Rossi, Davide, Catherwood, Mark, Kotaskova, Jana, Delgado, Julio, Rodríguez-Vicente, Ana Eugenia, Benito, Rocío, Rigolin, Gian Matteo, Bonfiglio, Silvia, Scarfo, Lydia, Mattsson, Mattias, Davis, Zadie, Gogia, Ajay, Rani, Lata, Baliakas, Panagiotis, Foroughi-Asl, Hassan, Jylhä, Cecilia, Skaftason, Aron, Rapado, Inmaculada, Mirás, Fátima, Martínez-López, Joaquín, Serna, Javier de la, De Las Rivas, Javier, Thornton, Patrick, Larráyoz, María José, Calasanz, Mª Jose, Fésüs, Viktória, Mátrai, Zoltán, Bödör, Csaba, Smedby, Karin E, Espinet, Blanca, Puiggros, Anna, Gupta, Ritu, Bullinger, Lars, Bosch, Francesc, Tazón‐Vega, Bárbara, Baran-Marszak, Fanny, Oscier, David, Nguyen-Khac, Florence, Zenz, Thorsten, Terol, María José, Cuneo, Antonio, Hernández-Sánchez, María, Pospisilova, Sarka, Mills, Ken, Gaidano, Gianluca, Niemann, Carsten U, Campo, Elías, Strefford, Jonathan C, Ghia, Paolo, Stamatopoulos, Kostas, Rosenquist, Richard, Associazione Italiana per la Ricerca sul Cancro, Ministero della Salute, Fundación la Caixa, American Association for Cancer Research, European Hematology Association, Lady Tata Memorial Trust, European Association for Cancer Research, Instituto de Salud Carlos III, Ministry of Innovation and Technology (Hungary), Università degli Studi di Ferrara, Associazione Italiana Contro le Leucemie - Linfomi e Mieloma, Danish Cancer Society Research Center, Cancer Research UK, Swedish Cancer Society, Swedish Research Council, Knut and Alice Wallenberg Foundation, Lions Cancerforskningsfond, Mansouri, Larry, Thorvaldsdottir, Birna, Sutton, Lesley-Ann, Karakatsoulis, Georgios, Meggendorfer, Manja, Parker, Helen, Nadeu, Ferran, Brieghel, Christian, Laidou, Stamatia, Moia, Riccardo, Rossi, Davide, Catherwood, Mark, Kotaskova, Jana, Delgado, Julio, Rodríguez-Vicente, Ana Eugenia, Benito, Rocío, Rigolin, Gian Matteo, Bonfiglio, Silvia, Scarfo, Lydia, Mattsson, Mattias, Davis, Zadie, Gogia, Ajay, Rani, Lata, Baliakas, Panagiotis, Foroughi-Asl, Hassan, Jylhä, Cecilia, Skaftason, Aron, Rapado, Inmaculada, Mirás, Fátima, Martínez-López, Joaquín, Serna, Javier de la, De Las Rivas, Javier, Thornton, Patrick, Larráyoz, María José, Calasanz, Mª Jose, Fésüs, Viktória, Mátrai, Zoltán, Bödör, Csaba, Smedby, Karin E, Espinet, Blanca, Puiggros, Anna, Gupta, Ritu, Bullinger, Lars, Bosch, Francesc, Tazón‐Vega, Bárbara, Baran-Marszak, Fanny, Oscier, David, Nguyen-Khac, Florence, Zenz, Thorsten, Terol, María José, Cuneo, Antonio, Hernández-Sánchez, María, Pospisilova, Sarka, Mills, Ken, Gaidano, Gianluca, Niemann, Carsten U, Campo, Elías, Strefford, Jonathan C, Ghia, Paolo, Stamatopoulos, Kostas, and Rosenquist, Richard

Abstract

Recent evidence suggests that the prognostic impact of gene mutations in patients with chronic lymphocytic leukemia (CLL) may differ depending on the immunoglobulin heavy variable (IGHV) gene somatic hypermutation (SHM) status. In this study, we assessed the impact of nine recurrently mutated genes (BIRC3, EGR2, MYD88, NFKBIE, NOTCH1, POT1, SF3B1, TP53, and XPO1) in pre-treatment samples from 4580 patients with CLL, using time-to-first-treatment (TTFT) as the primary end-point in relation to IGHV gene SHM status. Mutations were detected in 1588 (34.7%) patients at frequencies ranging from 2.3–9.8% with mutations in NOTCH1 being the most frequent. In both univariate and multivariate analyses, mutations in all genes except MYD88 were associated with a significantly shorter TTFT. In multivariate analysis of Binet stage A patients, performed separately for IGHV-mutated (M-CLL) and unmutated CLL (U-CLL), a different spectrum of gene alterations independently predicted short TTFT within the two subgroups. While SF3B1 and XPO1 mutations were independent prognostic variables in both U-CLL and M-CLL, TP53, BIRC3 and EGR2 aberrations were significant predictors only in U-CLL, and NOTCH1 and NFKBIE only in M-CLL. Our findings underscore the need for a compartmentalized approach to identify high-risk patients, particularly among M-CLL patients, with potential implications for stratified management.

Published
2023

21. Genetic Alterations in Members of the Proteasome 26S Subunit, AAA-ATPase (PSMC) Gene Family in the Light of Proteasome Inhibitor Resistance in Multiple Myeloma

Author

Haertle, Larissa, primary, Buenache, Natalia, additional, Cuesta Hernández, Hipólito Nicolás, additional, Simicek, Michal, additional, Snaurova, Renata, additional, Rapado, Inmaculada, additional, Martinez, Nerea, additional, López-Muñoz, Nieves, additional, Sánchez-Pina, José María, additional, Munawar, Umair, additional, Han, Seungbin, additional, Ruiz-Heredia, Yanira, additional, Colmenares, Rafael, additional, Gallardo, Miguel, additional, Sanchez-Beato, Margarita, additional, Piris, Miguel Angel, additional, Samur, Mehmet Kemal, additional, Munshi, Nikhil C., additional, Ayala, Rosa, additional, Kortüm, Klaus Martin, additional, Barrio, Santiago, additional, and Martínez-López, Joaquín, additional

Published
2023
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22. Different prognostic impact of recurrent gene mutations in chronic lymphocytic leukemia depending on IGHV gene somatic hypermutation status: a study by ERIC in HARMONY

Author

Mansouri, Larry, primary, Thorvaldsdottir, Birna, additional, Sutton, Lesley-Ann, additional, Karakatsoulis, Georgios, additional, Meggendorfer, Manja, additional, Parker, Helen, additional, Nadeu, Ferran, additional, Brieghel, Christian, additional, Laidou, Stamatia, additional, Moia, Riccardo, additional, Rossi, Davide, additional, Catherwood, Mark, additional, Kotaskova, Jana, additional, Delgado, Julio, additional, Rodríguez-Vicente, Ana E., additional, Benito, Rocío, additional, Rigolin, Gian Matteo, additional, Bonfiglio, Silvia, additional, Scarfo, Lydia, additional, Mattsson, Mattias, additional, Davis, Zadie, additional, Gogia, Ajay, additional, Rani, Lata, additional, Baliakas, Panagiotis, additional, Foroughi-Asl, Hassan, additional, Jylhä, Cecilia, additional, Skaftason, Aron, additional, Rapado, Inmaculada, additional, Miras, Fatima, additional, Martinez-Lopez, Joaquín, additional, de la Serna, Javier, additional, Rivas, Jesús María Hernández, additional, Thornton, Patrick, additional, Larráyoz, María José, additional, Calasanz, María José, additional, Fésüs, Viktória, additional, Mátrai, Zoltán, additional, Bödör, Csaba, additional, Smedby, Karin E., additional, Espinet, Blanca, additional, Puiggros, Anna, additional, Gupta, Ritu, additional, Bullinger, Lars, additional, Bosch, Francesc, additional, Tazón-Vega, Bárbara, additional, Baran-Marszak, Fanny, additional, Oscier, David, additional, Nguyen-Khac, Florence, additional, Zenz, Thorsten, additional, Terol, Maria Jose, additional, Cuneo, Antonio, additional, Hernández-Sánchez, María, additional, Pospisilova, Sarka, additional, Mills, Ken, additional, Gaidano, Gianluca, additional, Niemann, Carsten U., additional, Campo, Elias, additional, Strefford, Jonathan C., additional, Ghia, Paolo, additional, Stamatopoulos, Kostas, additional, and Rosenquist, Richard, additional

Published
2022
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23. Impact of FLT3–ITD Mutation Status and Its Ratio in a Cohort of 2901 Patients Undergoing Upfront Intensive Chemotherapy: A PETHEMA Registry Study

Author

Ayala, Rosa, primary, Carreño-Tarragona, Gonzalo, additional, Barragán, Eva, additional, Boluda, Blanca, additional, Larráyoz, María J., additional, Chillón, María Carmen, additional, Carrillo-Cruz, Estrella, additional, Bilbao, Cristina, additional, Sánchez-García, Joaquín, additional, Bernal, Teresa, additional, Martinez-Cuadron, David, additional, Gil, Cristina, additional, Serrano, Josefina, additional, Rodriguez-Medina, Carlos, additional, Bergua, Juan, additional, Pérez-Simón, José A., additional, Calbacho, María, additional, Alonso-Domínguez, Juan M., additional, Labrador, Jorge, additional, Tormo, Mar, additional, Amigo, Maria Luz, additional, Herrera-Puente, Pilar, additional, Rapado, Inmaculada, additional, Sargas, Claudia, additional, Vazquez, Iria, additional, Calasanz, María J., additional, Gomez-Casares, Teresa, additional, García-Sanz, Ramón, additional, Sanz, Miguel A., additional, Martínez-López, Joaquín, additional, and Montesinos, Pau, additional

Published
2022
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24. Genetic Alterations in Members of the Proteasome 26S Subunit, AAA-Atpase (PSMC) Gene Family Transmit Proteasome Inhibitor Resistance in Multiple Myeloma By Impacting the ADP/ATP Binding Pocket

Author

Haertle, Larissa, primary, Cuesta Hernandez, Hipolito Nicolas, additional, Buenache, Natalia Sofia, additional, Simicek, Michal, additional, Snaurova, Renata, additional, Rapado, Inmaculada, additional, Martinez, Nerea, additional, López-Muñoz, Nieves, additional, Sanchez-Pina, Jose Maria, additional, Colmenares, Rafael, additional, Sanchez-Beato, Margarita, additional, Piris, Miguel Angel, additional, Plaza Menacho, Ivan, additional, Kemal Samur, Mehmet, additional, Munshi, Nikhil C, additional, Ayala, Rosa, additional, Kortuem, K. Martin, additional, Barrio, Santiago, additional, and Martinez-Lopez, Joaquin, additional

Published
2022
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25. Dynamic Response Assesment Combining Liquid Biopsy MRD and PET/CT in Follicular Lymphoma Patients Including CAR-T Cell Therapy

Author

Martín-Muñoz, Alejandro, primary, Poza, María, additional, Figaredo, Gloria, additional, Dorado, Sara, additional, Ruiz-Heredia, Yanira, additional, Rodriguez, Margarita, additional, Rufian, Laura, additional, Rodriguez Izquierdo, Antonia, additional, Parrilla-Navamuel, Laura, additional, Wang, Chongwu, additional, Toledo, Paula, additional, Grande Garcia, Carlos, additional, Baumann, Tycho, additional, Calbacho, Maria, additional, Rapado, Inmaculada, additional, Gallardo, Miguel, additional, Canales, Miguel, additional, Sarandeses, Pilar, additional, Mollejo, Manuela, additional, Casado Montero, Luis Felipe, additional, Ayala, Rosa, additional, Martínez-López, Joaquín, additional, Barrio, Santiago, additional, and Jimenez-Ubieto, Ana, additional

Published
2022
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26. Real-Life Disease Monitoring in Follicular Lymphoma Patients Using Liquid Biopsy Ultra-Deep Sequencing and PET/CT

Author

Jiménez-Ubieto, Ana, primary, Poza, Maria, additional, Martin, Alejandro, additional, Ruiz-Heredia, Yanira, additional, Dorado, Sara, additional, Figaredo, Gloria, additional, Rosa-Rosa, Juan Manuel, additional, Rodriguez, Antonia, additional, Barcena, Carmen, additional, Parrilla-Navamuel, Laura, additional, Carrillo, Jaime, additional, Perez, Ricardo Sanchez, additional, Rufian, Laura, additional, Juarez, Alexandra, additional, Rodriguez, Margarita, additional, Wang, Chonwu, additional, de Toledo, Paula, additional, Grande, Carlos, additional, Mollejo, Manuela, additional, Casado, Luis, additional, CALBACHO, Maria, additional, Baumann, Tycho, additional, Rapado, Inmaculada, additional, Gallardo, Miguel, additional, Sarandeses, Pilar, additional, Ayala, Rosa, additional, Martínez-López, Joaquín, additional, and Barrio, Santiago, additional

Published
2022
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27. Impact of FLT3–ITD Mutation Status and Its Ratio in a Cohort of 2901 Patients Undergoing Upfront Intensive Chemotherapy: A PETHEMA Registry Study

Author

Instituto de Salud Carlos III, Fundación CRIS contra el Cáncer, Instituto de Investigación Hospital 12 de Octubre, Ayala Bueno, Rosa, Carreño-Tarragona, Gonzalo, Barragán, Eva, Boluda, Blanca, Larráyoz, María José, Chillón, M. del Carmen, Carrillo Cruz, Estrella, Bilbao, Cristina, Sanchez-Garcia, Joaquin, Bernal, T., Martínez-Cuadrón, David, Gil, Cristina, Serrano, Josefina, Rodríguez-Medina, Carlos, Bergua, Juan, Pérez-Simón, José A., Calbacho, María, Alonso-Domínguez, Juan Manuel, Labrador, Jorge, Tormo, Mar, Amigo, María Luz, Herrera, Pilar, Rapado, Inmaculada, Sargas, Claudia, Vázquez, Iria, Calasanz, Mª Jose, Gómez-Casares, M. T., García-Sanz, Ramón, Sanz, Miguel Ángel, Martínez-López, Joaquín, Montesinos, Pau, Instituto de Salud Carlos III, Fundación CRIS contra el Cáncer, Instituto de Investigación Hospital 12 de Octubre, Ayala Bueno, Rosa, Carreño-Tarragona, Gonzalo, Barragán, Eva, Boluda, Blanca, Larráyoz, María José, Chillón, M. del Carmen, Carrillo Cruz, Estrella, Bilbao, Cristina, Sanchez-Garcia, Joaquin, Bernal, T., Martínez-Cuadrón, David, Gil, Cristina, Serrano, Josefina, Rodríguez-Medina, Carlos, Bergua, Juan, Pérez-Simón, José A., Calbacho, María, Alonso-Domínguez, Juan Manuel, Labrador, Jorge, Tormo, Mar, Amigo, María Luz, Herrera, Pilar, Rapado, Inmaculada, Sargas, Claudia, Vázquez, Iria, Calasanz, Mª Jose, Gómez-Casares, M. T., García-Sanz, Ramón, Sanz, Miguel Ángel, Martínez-López, Joaquín, and Montesinos, Pau

Abstract

FLT3–ITD results in a poor prognosis in terms of overall survival (OS) and relapse-free survival (RFS) in acute myeloid leukemia (AML). However, the prognostic usefulness of the allelic ratio (AR) to select post-remission therapy remains controversial. Our study focuses on the prognostic impact of FLT3–ITD and its ratio in a series of 2901 adult patients treated intensively in the pre-FLT3 inhibitor era and reported in the PETHEMA registry. A total of 579 of these patients (20%) harbored FLT3–ITD mutations. In multivariate analyses, patients with an FLT3–ITD allele ratio (AR) of >0.5 showed a lower complete remission (CR rate) and OS (HR 1.47, p = 0.009), while AR > 0.8 was associated with poorer RFS (HR 2.1; p < 0.001). Among NPM1/FLT3–ITD-mutated patients, median OS gradually decreased according to FLT3–ITD status and ratio (34.3 months FLT3–ITD-negative, 25.3 months up to 0.25, 14.5 months up to 0.5, and 10 months ≥ 0.5, p < 0.001). Post-remission allogeneic transplant (allo-HSCT) resulted in better OS and RFS as compared to auto-HSCT in NPM1/FLT3–ITD-mutated AML regardless of pre-established AR cutoff (≤0.5 vs. >0.5). Using the maximally selected log-rank statistics, we established an optimal cutoff of FLT3–ITD AR of 0.44 for OS, and 0.8 for RFS. We analyzed the OS and RFS according to FLT3–ITD status in all patients, and we found that the group of FLT3–ITD-positive patients with AR < 0.44 had similar 5-year OS after allo-HSCT or auto-HSCT (52% and 41%, respectively, p = 0.86), but worse RFS after auto-HSCT (p = 0.01). Among patients with FLT3–ITD AR > 0.44, allo-HSCT was superior to auto-HSCT in terms of OS and RFS. This study provides more evidence for a better characterization of patients with AML harboring FLT3–ITD mutations.

Published
2022

29. Different Prognostic Impact of Recurrent Gene Mutations in IGHV-Mutated and IGHV-Unmutated Chronic Lymphocytic Leukemia: A Retrospective, Multi-Center Cohort Study By Eric, the European Research Initiative on CLL, in Harmony

Author

Mansouri, Larry, primary, Thorvaldsdottir, Birna, additional, Sutton, Lesley-Ann, additional, Meggendorfer, Manja, additional, Nadeu, Ferran, additional, Brieghel, Christian, additional, Parker, Helen, additional, Laidou, Stamatia, additional, Moia, Riccardo, additional, Rossi, Davide, additional, Catherwood, Mark, additional, Kotaskova, Jana, additional, Delgado, Julio, additional, Rodríguez-Vicente, Ana E, additional, Benito, Rocio, additional, Rigolin, Gian Matteo, additional, Bonfiglio, Silvia, additional, Scarfo, Lydia, additional, Mattsson, Mattias, additional, Davis, Zadie, additional, Gogia, Ajay, additional, Rani, Lata, additional, Baliakas, Panagiotis, additional, Jylhä, Cecilia, additional, Skaftason, Aron, additional, Rapado, Inmaculada, additional, Miras, Fatima, additional, Martinez-Lopez, Joaquin, additional, de la Serna, Javier, additional, Hernández Rivas, Jesús M, additional, Thornton, Patrick, additional, Larrayoz, Maria Jose, additional, Calasanz, María José, additional, Mátrai, Zoltán, additional, Bodor, Csaba, additional, Smedby, Karin E., additional, Espinet, Blanca, additional, Puiggros, Anna, additional, Gupta, Ritu, additional, Bullinger, Lars, additional, Bosch, Francesc, additional, Tazón, Bárbara, additional, Baran-Marszak, Fanny, additional, Oscier, David, additional, Nguyen-Khac, Florence, additional, Zenz, Thorsten, additional, Terol, María José, additional, Cuneo, Antonio, additional, Hernández-Sánchez, María, additional, Pospisilova, Sarka, additional, Mills, Ken I, additional, Gaidano, Gianluca, additional, Niemann, Carsten Utoft, additional, Campo, Elías, additional, Strefford, Jonathan C, additional, Ghia, Paolo, additional, Stamatopoulos, Kostas, additional, and Rosenquist, Richard, additional

Published
2021
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30. Nationwide Laboratory Network for AML Cross-Validated NGS Studies: Results from a Real-Life Cohort of the Pethema Group

Author

Sargas, Claudia, primary, Ayala, Rosa, additional, Chillon, Carmen, additional, Larrayoz, Maria Jose, additional, Carrillo, Estrella, additional, Bilbao, Cristina, additional, Yébenes, Manuel, additional, Llop, Marta, additional, Rapado, Inmaculada, additional, Garcia-Sanz, Ramon, additional, Vazquez, Iria, additional, Soria, Elena, additional, Sánchez-Sosa, Santiago, additional, Janusz, Kamila, additional, Botella, Carmen, additional, Serrano, Josefina, additional, Martinez-Cuadron, David, additional, Bergua, Juan-Miguel, additional, Amigo, Maria Luz, additional, Martinez Sanchez, Pilar, additional, Tormo, Mar, additional, Bernal, Teresa, additional, Herrera-Puente, Pilar, additional, García-Boyero, Raimundo, additional, Algarra, Lorenzo, additional, Sayas, Maria Jose, additional, Costilla-Barriga, Lisette, additional, Pérez-Santolalla, Esther, additional, Marchante, Inmaculada, additional, Lavilla-Rubira, Esperanza, additional, Noriega, Víctor, additional, Alonso Dominguez, Juan Manuel, additional, Sanz, Miguel A., additional, Sánchez, Joaquín, additional, Gómez-Casares, María Teresa, additional, Perez-Simon, Jose A., additional, Calasanz, María José, additional, González, Marcos, additional, Martínez-López, Joaquín, additional, Barragán, Eva, additional, and Montesinos, Pau, additional

Published
2021
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31. Potential Utility of Circulating Tumor DNA Monitoring in Primary Mediastinal B-Cell Lymphoma Treated with R-DA-EPOCH

Author

Jimenez-Ubieto, Ana, primary, Poza, María, additional, Martín-Muñoz, Alejandro, additional, Dorado, Sara, additional, Heredia, Yanira, additional, Sarandeses, Pilar, additional, Bárcena, Carmen, additional, Rufian, Laura, additional, Canales, Miguel, additional, Juarez, Alejandra, additional, Rodriguez Izquierdo, Antonia, additional, Baumann, Tycho, additional, Grande, Carlos, additional, Sanchez, Ricardo, additional, de la Rosa, Juan Manuel, additional, López-Muñoz, Nieves, additional, Hidalgo, Marta, additional, Vera, Elena, additional, Gallardo, Miguel, additional, Rapado, Inmaculada, additional, Ayala, Rosa, additional, Martínez-López, Joaquín, additional, and Barrio, Santiago, additional

Published
2021
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32. First Nationwide Molecular Screening Program in Spain for Patients With Advanced Breast Cancer: Results From the AGATA SOLTI-1301 Study

Author

Pernas, Sonia, primary, Villagrasa, Patricia, additional, Vivancos, Ana, additional, Scaltriti, Maurizio, additional, Rodón, Jordi, additional, Burgués, Octavio, additional, Nuciforo, Paolo, additional, Canes, Jordi, additional, Paré, Laia, additional, Dueñas, Marta, additional, Vidal, Maria, additional, Cejalvo, Juan Miguel, additional, Perelló, Antonia, additional, Llommbard-Cussac, Antonio, additional, Dorca, Joan, additional, Montaño, Alvaro, additional, Pascual, Tomás, additional, Oliveira, Mafalda, additional, Ribas, Gloria, additional, Rapado, Inmaculada, additional, Prat, Aleix, additional, and Ciruelos, Eva, additional

Published
2021
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36. The Mutational Landscape of Acute Myeloid Leukaemia Predicts Responses and Outcomes in Elderly Patients from the PETHEMA-FLUGAZA Phase 3 Clinical Trial

Author

Ayala, Rosa, Rapado, Inmaculada, Onecha, Esther, Martínez-Cuadrón, David, Carreño-Tarragona, Gonzalo, Bergua Burgues, Juan Miguel, Vives Polo, Susana, Algarra, Jesus Lorenzo, Tormo, Mar, Martinez, Pilar, Serrano, Josefina, Herrera, Pilar, Ramos, Fernando, Salamero, Olga, Lavilla, Esperanza, Gil, Cristina, López Lorenzo, Jose Luis, Vidriales, María Belén, Labrador, Jorge, Falantes, José Francisco, Sayas, María José, Paiva, Bruno, Barragán, Eva, Prosper, Felipe, Sanz, Miguel A.., Martínez-López, Joaquín, Montesinos, Pau, Universitat Autònoma de Barcelona, Centro de Investigación Biomédica en Red Cáncer (España), Instituto de Salud Carlos III, Fundación CRIS contra el Cáncer, Instituto de Investigación Hospital 12 de Octubre, European Commission, Cancer Research UK, Fundación Científica Asociación Española Contra el Cáncer, Associazione Italiana per la Ricerca sul Cancro, Institut Català de la Salut, [Ayala R] Hematology Department, Hospital Universitario 12 de Octubre, Instituto de Investigación Sanitaria Imas12, 28041 Madrid, Spain. Hematological Malignancies Clinical Research Unit, CNIO, 28029 Madrid, Spain. Departament of Medicine, Complutense University, 28040 Madrid, Spain. Centro de Investigación Biomédica en Red de Cáncer (CIBERONC), Instituto Carlos III, 28029 Madrid, Spain. [Rapado I] Hematology Department, Hospital Universitario 12 de Octubre, Instituto de Investigación Sanitaria Imas12, 28041 Madrid, Spain. Hematological Malignancies Clinical Research Unit, CNIO, 28029 Madrid, Spain. Centro de Investigación Biomédica en Red de Cáncer (CIBERONC), Instituto Carlos III, 28029 Madrid, Spain. [Onecha E, Carreño-Tarragona G] Hematology Department, Hospital Universitario 12 de Octubre, Instituto de Investigación Sanitaria Imas12, 28041 Madrid, Spain. Hematological Malignancies Clinical Research Unit, CNIO, 28029 Madrid, Spain. [Martínez-Cuadrón D] Hematology Department, Hospital Universitario y Politécnico La Fe, 46026 Valencia, Spain. [Bergua JM] Hematology Department, Hospital San Pedro Acantara, 10003 Cáceres, Spain. [Salamero O] Servei d’Hematologia, Vall d’Hebron Hospital Universitari, Barcelona, Spain, and Vall d'Hebron Barcelona Hospital Campus

Subjects
Neuroblastoma RAS viral oncogene homolog, Oncology, Cancer Research, genetic risk, Myeloid neoplasia, leukemic cells, 0302 clinical medicine, cytarabine, clinical trials and observations, Other subheadings::/diagnosis [Other subheadings], Medicine, Complete remission, azacytidine, older adults, RC254-282, variants, Leukemia, Azacytidine, Hazard ratio, leukemia, Variants, Cytarabine, acute, Neoplasms::Neoplasms by Histologic Type::Leukemia::Leukemia, Myeloid::Leukemia, Myeloid, Acute [DISEASES], Neoplasms. Tumors. Oncology. Including cancer and carcinogens, Myeloid leukemia, Fludarabine, 030220 oncology & carcinogenesis, NGS, Older adults, Leucèmia mieloide aguda - Tractament, myeloid neoplasia, Myelocytic, medicine.drug, medicine.medical_specialty, myelocytic, complete remission, Otros calificadores::/diagnóstico [Otros calificadores], Subgroup analysis, Leukemic cells, Acute, Prognostic factors, Article, neoplasias::neoplasias por tipo histológico::leucemia::leucemia mieloide::leucemia mieloide aguda [ENFERMEDADES], 03 medical and health sciences, Internal medicine, Genetic risk, business.industry, prognostic factors, diagnóstico::pronóstico::resultado del tratamiento [TÉCNICAS Y EQUIPOS ANALÍTICOS, DIAGNÓSTICOS Y TERAPÉUTICOS], Odds ratio, Diagnosis::Prognosis::Treatment Outcome [ANALYTICAL, DIAGNOSTIC AND THERAPEUTIC TECHNIQUES, AND EQUIPMENT], medicine.disease, Avaluació de resultats (Assistència sanitària), business, Clinical trials and observations, 030215 immunology
Abstract

This article belongs to the Collection The Biomarkers for the Diagnosis and Prognosis in Cancer., [Simple Summary] Mutational profiling using a custom 43-gene next-generation sequencing panel revealed that patients with mutated DNMT3A or EZH2, or an increase in TET2 VAF and lower TP53 VAF showed a higher overall response. NRAS and TP53 variants were associated with shorter overall survival (OS), whereas only mutated BCOR was associated with a shorter relapse-free survival (RFS). Subgroup analyses of OS according to biological and genomic characteristics showed that patients with low–intermediate cytogenetic risk and mutated NRAS benefited from azacytidine therapy and patients with mutated TP53 showed a better RFS in the azacytidine arm. In conclusion, differential mutational profiling might anticipate the outcomes of first-line treatment choices (AZA or FLUGA) in older patients with AML., [Abstract] We sought to predict treatment responses and outcomes in older patients with newly diagnosed acute myeloid leukemia (AML) from our FLUGAZA phase III clinical trial (PETHEMA group) based on mutational status, comparing azacytidine (AZA) with fludarabine plus low-dose cytarabine (FLUGA). Mutational profiling using a custom 43-gene next-generation sequencing panel revealed differences in profiles between older and younger patients, and several prognostic markers that were useful in young patients were ineffective in older patients. We examined the associations between variables and overall responses at the end of the third cycle. Patients with mutated DNMT3A or EZH2 were shown to benefit from azacytidine in the treatment-adjusted subgroup analysis. An analysis of the associations with tumor burden using variant allele frequency (VAF) quantification showed that a higher overall response was associated with an increase in TET2 VAF (odds ratio (OR), 1.014; p = 0.030) and lower TP53 VAF (OR, 0.981; p = 0.003). In the treatment-adjusted multivariate survival analyses, only the NRAS (hazard ratio (HR), 1.9, p = 0.005) and TP53 (HR, 2.6, p = 9.8 × 10−7) variants were associated with shorter overall survival (OS), whereas only mutated BCOR (HR, 3.6, p = 0.0003) was associated with a shorter relapse-free survival (RFS). Subgroup analyses of OS according to biological and genomic characteristics showed that patients with low–intermediate cytogenetic risk (HR, 1.51, p = 0.045) and mutated NRAS (HR, 3.66, p = 0.047) benefited from azacytidine therapy. In the subgroup analyses, patients with mutated TP53 (HR, 4.71, p = 0.009) showed a better RFS in the azacytidine arm. In conclusion, differential mutational profiling might anticipate the outcomes of first-line treatment choices (AZA or FLUGA) in older patients with AML. The study is registered at ClinicalTrials.gov as NCT02319135., This study was supported by the Centro de Investigación Biomédica en Red—Área de Oncología–del Instituto de Salud Carlos III (CIBERONC; CB16/12/00369) and the Subdirección General de Investigación Sanitaria (Instituto de Salud Carlos III, Spain) grants PI16/01530, PI16/01661, PI19/01518, and PI19/00730, the CRIS against Cancer foundation, grant 2018/001, and by the Instituto de Investigación Hospital 12 de Octubre (IMAS12) (co-financed by FEDER funds). The study was supported internationally by Cancer Research UK, FCAECC and AIRC under the Accelerator Award Program.

Published
2021

37. MPL S505C enhances driver mutations at W515 in essential thrombocythemia.

Author

UCL - SSS/DDUV/SIGN - Cell signalling, Varghese, Leila N, Carreño-Tarragona, Gonzalo, Levy, Gabriel, Gutiérrez-López de Ocáriz, Xabier, Rapado, Inmaculada, Martínez-López, Joaquín, Ayala, Rosa, Constantinescu, Stefan N., UCL - SSS/DDUV/SIGN - Cell signalling, Varghese, Leila N, Carreño-Tarragona, Gonzalo, Levy, Gabriel, Gutiérrez-López de Ocáriz, Xabier, Rapado, Inmaculada, Martínez-López, Joaquín, Ayala, Rosa, and Constantinescu, Stefan N.

Published
2021

38. The Mutational Landscape of Acute Myeloid Leukaemia Predicts Responses and Outcomes in Elderly Patients from the PETHEMA-FLUGAZA Phase 3 Clinical Trial

Author

Centro de Investigación Biomédica en Red Cáncer (España), Instituto de Salud Carlos III, Fundación CRIS contra el Cáncer, Instituto de Investigación Hospital 12 de Octubre, European Commission, Cancer Research UK, Fundación Científica Asociación Española Contra el Cáncer, Associazione Italiana per la Ricerca sul Cancro, Ayala, Rosa, Rapado, Inmaculada, Onecha, Esther, Martínez-Cuadrón, David, Carreño-Tarragona, Gonzalo, Bergua, Juan, Vives, Susana, Lorenzo Algarra, Jesús, Tormo, Mar, López Martínez, Pilar, Serrano-López, Josefina, Herrera, Pilar, Ramos, Fernando, Salamero, Olga, Lavilla, Esperanza, Gil, Cristina, López Lorenzo, José Luis, Vidriales, Maria Belén, Labrador, Jorge, Falantes-González, José Francisco, Sayas, María-José, Paiva, Bruno, Barragán, Eva, Prósper, Felipe, Sanz, Miguel Ángel, Martínez-López, Joaquín, Montesinos, Pau, Centro de Investigación Biomédica en Red Cáncer (España), Instituto de Salud Carlos III, Fundación CRIS contra el Cáncer, Instituto de Investigación Hospital 12 de Octubre, European Commission, Cancer Research UK, Fundación Científica Asociación Española Contra el Cáncer, Associazione Italiana per la Ricerca sul Cancro, Ayala, Rosa, Rapado, Inmaculada, Onecha, Esther, Martínez-Cuadrón, David, Carreño-Tarragona, Gonzalo, Bergua, Juan, Vives, Susana, Lorenzo Algarra, Jesús, Tormo, Mar, López Martínez, Pilar, Serrano-López, Josefina, Herrera, Pilar, Ramos, Fernando, Salamero, Olga, Lavilla, Esperanza, Gil, Cristina, López Lorenzo, José Luis, Vidriales, Maria Belén, Labrador, Jorge, Falantes-González, José Francisco, Sayas, María-José, Paiva, Bruno, Barragán, Eva, Prósper, Felipe, Sanz, Miguel Ángel, Martínez-López, Joaquín, and Montesinos, Pau

Abstract

[Simple Summary] Mutational profiling using a custom 43-gene next-generation sequencing panel revealed that patients with mutated DNMT3A or EZH2, or an increase in TET2 VAF and lower TP53 VAF showed a higher overall response. NRAS and TP53 variants were associated with shorter overall survival (OS), whereas only mutated BCOR was associated with a shorter relapse-free survival (RFS). Subgroup analyses of OS according to biological and genomic characteristics showed that patients with low–intermediate cytogenetic risk and mutated NRAS benefited from azacytidine therapy and patients with mutated TP53 showed a better RFS in the azacytidine arm. In conclusion, differential mutational profiling might anticipate the outcomes of first-line treatment choices (AZA or FLUGA) in older patients with AML., [Abstract] We sought to predict treatment responses and outcomes in older patients with newly diagnosed acute myeloid leukemia (AML) from our FLUGAZA phase III clinical trial (PETHEMA group) based on mutational status, comparing azacytidine (AZA) with fludarabine plus low-dose cytarabine (FLUGA). Mutational profiling using a custom 43-gene next-generation sequencing panel revealed differences in profiles between older and younger patients, and several prognostic markers that were useful in young patients were ineffective in older patients. We examined the associations between variables and overall responses at the end of the third cycle. Patients with mutated DNMT3A or EZH2 were shown to benefit from azacytidine in the treatment-adjusted subgroup analysis. An analysis of the associations with tumor burden using variant allele frequency (VAF) quantification showed that a higher overall response was associated with an increase in TET2 VAF (odds ratio (OR), 1.014; p = 0.030) and lower TP53 VAF (OR, 0.981; p = 0.003). In the treatment-adjusted multivariate survival analyses, only the NRAS (hazard ratio (HR), 1.9, p = 0.005) and TP53 (HR, 2.6, p = 9.8 × 10−7) variants were associated with shorter overall survival (OS), whereas only mutated BCOR (HR, 3.6, p = 0.0003) was associated with a shorter relapse-free survival (RFS). Subgroup analyses of OS according to biological and genomic characteristics showed that patients with low–intermediate cytogenetic risk (HR, 1.51, p = 0.045) and mutated NRAS (HR, 3.66, p = 0.047) benefited from azacytidine therapy. In the subgroup analyses, patients with mutated TP53 (HR, 4.71, p = 0.009) showed a better RFS in the azacytidine arm. In conclusion, differential mutational profiling might anticipate the outcomes of first-line treatment choices (AZA or FLUGA) in older patients with AML. The study is registered at ClinicalTrials.gov as NCT02319135.

Published
2021

39. TYK2 Variants in B-Acute Lymphoblastic Leukaemia

Author

Turrubiartes-Martínez, Edgar, Bodega-Mayor, Irene, Delgado-Wicke, Pablo, Molina-Jiménez, Francisca, Casique-Aguirre, Diana, González-Andrade, Martín, Rapado, Inmaculada, Camós, Mireia, Díaz de Heredia, Cristina, Barragán, Eva, Ramírez, Manuel, Aguado, Beatriz, Figuera, Ángela, Martínez-López, Joaquín, Fernández-Ruiz, Elena, and Universitat Autònoma de Barcelona

Subjects
Male, 0301 basic medicine, 0302 clinical medicine, Ezrin, Radixin, Interferon, hemic and lymphatic diseases, Child, Genetics (clinical), Kinase, IFNα/β receptor alpha chain (IFNAR1), next-generation sequencing, Neoplasm Proteins, TYK2 expression, Tyrosine kinase 2, Child, Preschool, 030220 oncology & carcinogenesis, Female, Signal transduction, medicine.drug, Adult, Adolescent, lcsh:QH426-470, B-cell precursor acute lymphoblastic leukaemia, Moesin, Molecular Dynamics Simulation, Molecular dynamics, Biology, Article, IFNa, 03 medical and health sciences, TYK2 variants, Cell Line, Tumor, Precursor B-Cell Lymphoblastic Leukemia-Lymphoma, Genetics, medicine, Humans, IFNa/ß receptor alpha chain (IFNAR1), next-generation sequencing, B-cell precursor acute lymphoblastic leukaemia, IFNa, IFNa/ß receptor alpha chain (IFNAR1), next-generation sequencing, TYK2 expression, TYK2 variants, immune surveillance, molecular dynamics, TYK2 Kinase, immune surveillance, Infant, Molecular biology, molecular dynamics, IFNα/β receptor alpha chain (IFNAR1), Immune surveillance, lcsh:Genetics, 030104 developmental biology, Mutation, Next-generation sequencing, next-generation sequencing, Janus kinase, IFNα
Abstract

B-cell precursor acute lymphoblastic leukaemia (B-ALL) is a malignancy of lymphoid progenitor cells with altered genes including the Janus kinase (JAK) gene family. Among them, tyrosine kinase 2 (TYK2) is involved in signal transduction of cytokines such as interferon (IFN) &alpha, /&beta, through IFN&minus, &alpha, receptor alpha chain (IFNAR1). To search for disease-associated TYK2 variants, bone marrow samples from 62 B-ALL patients at diagnosis were analysed by next-generation sequencing. TYK2 variants were found in 16 patients (25.8%): one patient had a novel mutation at the four-point-one, ezrin, radixin, moesin (FERM) domain (S431G) and two patients had the rare variants rs150601734 or rs55882956 (R425H or R832W). To functionally characterise them, they were generated by direct mutagenesis, cloned in expression vectors, and transfected in TYK2-deficient cells. Under high-IFN&alpha, doses, the three variants were competent to phosphorylate STAT1/2. While R425H and R832W induced STAT1/2-target genes measured by qPCR, S431G behaved as the kinase-dead form of the protein. None of these variants phosphorylated STAT3 in in vitro kinase assays. Molecular dynamics simulation showed that TYK2/IFNAR1 interaction is not affected by these variants. Finally, qPCR analysis revealed diminished expression of TYK2 in B-ALL patients at diagnosis compared to that in healthy donors, further stressing the tumour immune surveillance role of TYK2.

Published
2020

42. Spanish Guidelines for the use of targeted deep sequencing in myelodysplastic syndromes and chronic myelomonocytic leukaemia

Author

Palomo, Laura, Ibáñez, Mariam, Abáigar, María, Vázquez, Iria, Álvarez, Sara, Cabezón, Marta, Tazón‐Vega, Bárbara, Rapado, Inmaculada, Fuster‐Tormo, Francisco, Cervera, José, Benito, Rocío, Larráyoz, María José, Cigudosa, Juan C., Zamora, Lurdes, Valcárcel, David, Cedena, Maria-Teresa, Acha, Pamela, Hernandez-Sánchez, Jesus M., Fernández‐Mercado, Marta, Sanz, Guillermo, Hernández, Jesús M., Calasanz, Mª Jose, Solé, Francesc, Such, Esperanza, Palomo, Laura, Ibáñez, Mariam, Abáigar, María, Vázquez, Iria, Álvarez, Sara, Cabezón, Marta, Tazón‐Vega, Bárbara, Rapado, Inmaculada, Fuster‐Tormo, Francisco, Cervera, José, Benito, Rocío, Larráyoz, María José, Cigudosa, Juan C., Zamora, Lurdes, Valcárcel, David, Cedena, Maria-Teresa, Acha, Pamela, Hernandez-Sánchez, Jesus M., Fernández‐Mercado, Marta, Sanz, Guillermo, Hernández, Jesús M., Calasanz, Mª Jose, Solé, Francesc, and Such, Esperanza

Abstract

The landscape of medical sequencing has rapidly changed with the evolution of next generation sequencing (NGS). These technologies have contributed to the molecular characterization of the myelodysplastic syndromes (MDS) and chronic myelomonocytic leukaemia (CMML), through the identification of recurrent gene mutations, which are present in >80% of patients. These mutations contribute to a better classification and risk stratification of the patients. Currently, clinical laboratories include NGS genomic analyses in their routine clinical practice, in an effort to personalize the diagnosis, prognosis and treatment of MDS and CMML. NGS technologies have reduced the cost of large‐scale sequencing, but there are additional challenges involving the clinical validation of these technologies, as continuous advances are constantly being made. In this context, it is of major importance to standardize the generation, analysis, clinical interpretation and reporting of NGS data. To that end, the Spanish MDS Group (GESMD) has expanded the present set of guidelines, aiming to establish common quality standards for the adequate implementation of NGS and clinical interpretation of the results, hoping that this effort will ultimately contribute to the benefit of patients with myeloid malignancies.

Published
2020

43. Networking for advanced molecular diagnosis in acute myeloid leukemia patients is possible: the PETHEMA NGS-AML project

Author

Sargas, Claudia, primary, Ayala, Rosa, additional, Chillón, María Carmen, additional, Larráyoz, María J., additional, Carrillo-Cruz, Estrella, additional, Bilbao, Cristina, additional, Yébenes-Ramírez, Manuel, additional, Llop, Marta, additional, Rapado, Inmaculada, additional, García-Sanz, Ramón, additional, Vázquez, Iria, additional, Soria, Elena, additional, Florido-Ortega, Yanira, additional, Janusz, Kamila, additional, Botella, Carmen, additional, Serrano, Josefina, additional, Martínez-Cuadrón, David, additional, Bergua, Juan, additional, Amigo, Mari Luz, additional, Martínez-Sánchez, Pilar, additional, Tormo, Mar, additional, Bernal, Teresa, additional, Herrera-Puente, Pilar, additional, García, Raimundo, additional, Algarra, Lorenzo, additional, Sayas, María J., additional, Costilla-Barriga, Lisette, additional, Pérez-Santolalla, Esther, additional, Marchante, Inmaculada, additional, Lavilla-Rubira, Esperanza, additional, Noriega, Víctor, additional, Alonso-Domínguez, Juan M., additional, Sanz, Miguel Á., additional, Sánchez-Garcia, Joaquín, additional, Gómez-Casares, María T., additional, Pérez-Simón, José A., additional, Calasanz, María J., additional, González-Díaz, Marcos, additional, Martínez-López, Joaquín, additional, Barragán, Eva, additional, and Montesinos, Pau, additional

Published
2020
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44. Differences in the Mutational Landscape of Myeloid Malignancies (acute myeloid leukemia, myelodysplastic syndrome and myeloproliferative neoplasm) and Their Clinical Impact

Author

Poza, María, primary, Colmenares, Rafael, additional, González, Alba, additional, Alvarez, Noemi, additional, Carreño Gomez-Tarragona, Gonzalo, additional, Onecha, Esther, additional, Cedena, María Teresa, additional, Martínez, Pilar, additional, de la Rosa, Juan Manuel, additional, Rapado, Inmaculada, additional, Barragán, Eva, additional, Montesinos, Pau, additional, Llobet, Rafael, additional, Sanz, Miguel, additional, Martinez-Lopez, Joaquin, additional, and Ayala, Rosa, additional

Published
2020
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45. Detection of Emerging Resistant Clones in Philadelphia-Positive Leukemia Patients Exposed to Tyrosine Kinase Inhibitors. Correlation of cDNA and Gdna Approaches

Author

Sanchez, Ricardo, primary, de la Rosa, Juan Manuel, additional, Heredia, Yanira, additional, Carrillo, Jaime, additional, Rufian, Laura, additional, Onecha, Esther, additional, Carreño Gomez-Tarragona, Gonzalo, additional, Wang, Chongwu, additional, Linares, María, additional, Sanchez-Pina, Jose, additional, Rapado, Inmaculada, additional, Ribera, Josep-Maria, additional, Ayala, Rosa, additional, Martinez-López, Joaquin, additional, and Barrio, Santiago, additional

Published
2020
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46. Minimal Residual Disease Monitoring from Liquid Biopsy By Next Generation Sequencing in Follicular Lymphoma Patients

Author

Jiminez Ubieto, Ana Isabel, primary, Heredia, Yanira, additional, de la Rosa, Juan Manuel, additional, Rodriguez Izquierdo, Antonia, additional, Rufian, Laura, additional, Carrillo, Jaime, additional, Sanchez, Ricardo, additional, Onecha, Esther, additional, Wang, Chongwu, additional, Sarandeses, Pilar, additional, Poza, María, additional, Bárcena, Carmen, additional, Grande, Carlos, additional, Canales, Miguel A, additional, Rapado, Inmaculada, additional, Ayala, Rosa, additional, Gallardo, Miguel, additional, Martinez-López, Joaquin, additional, and Barrio, Santiago, additional

Published
2020
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47. Validation of the High-Risk Prognostic Score Defined By the Presence of Mutations in NRAS or TP53 in a Cohort of 497 Patients with Acute Myeloid Leukemia

Author

Ayala, Rosa, primary, Montesinos, Pau, additional, Barragán, Eva, additional, Martinez-Lopez, Joaquin, additional, Sanz, Miguel A., additional, Ruiz-Heredia, Yanira, additional, Barrio, Santiago, additional, de la Rosa, Juan Manuel, additional, Rapado, Inmaculada, additional, Martinez, Pilar, additional, Colmenares, Rafael, additional, Pozas, Maria, additional, Gutierrez, Xabier, additional, Morales, María Luz, additional, and Álvarez Sánchez-Redondo, Noemí, additional

Published
2020
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49. Improving the prediction of acute myeloid leukaemia outcomes by complementing mutational profiling withex vivochemosensitivity

Author

Onecha, Esther, primary, Ruiz‐Heredia, Yanira, additional, Martínez‐Cuadrón, David, additional, Barragán, Eva, additional, Martinez‐Sanchez, Pilar, additional, Linares, María, additional, Rapado, Inmaculada, additional, Perez‐Oteyza, Jaime, additional, Magro, Elena, additional, Herrera, Pilar, additional, Rojas, José Luis, additional, Gorrochategui, Julián, additional, Villoria, Jesús, additional, Boluda, Blanca, additional, Sargas, Claudia, additional, Ballesteros, Joan, additional, Montesinos, Pau, additional, Martínez‐López, Joaquín, additional, and Ayala, Rosa, additional

Published
2020
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50. Mutational Profiling Predicts Clinical Outcomes to Azacytidine and Low Dose Cytarabine Plus Fludarabine (FLUGA) in Elderly Acute Myeloid Leukemia Patients Enrolled in the Pethema Phase III Flugaza Trial

Author

Ayala, Rosa M., primary, Rapado, Inmaculada, additional, Martínez-Cuadron, David, additional, Onecha, Esther, additional, Rufian, Laura, additional, Juarez, Alexandra, additional, Bergua Burgues, Juan, additional, Vives, Susana, additional, Algarra, Jesús Lorenzo, additional, Tormo, Mar, additional, Martinez, Pilar, additional, Serrano, Josefina, additional, Herrera, Pilar, additional, Ramos, Fernando, additional, Salamero, Olga, additional, Lavilla, Esperanza, additional, Gil, Cristina, additional, Lopez Lorenzo, Jose Luis, additional, Vidriales, Maria-Belen, additional, Labrador, Jorge, additional, Falantes, José F., additional, Sayas, Maria Jose, additional, Paiva, Bruno, additional, Barragán, Eva, additional, Prosper, Felipe, additional, Sanz, Miguel A., additional, Martinez Lopez, Joaquin, additional, and Fernandez, Pau Montesinos, additional

Published
2019
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