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1.
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30 p, 7.3 MB |
Single-Cell Multiomics Analysis of Myelodysplastic Syndromes and Clinical Response to Hypomethylating Therapy
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Campillo-Marcos, Ignacio (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ;
Casado Pelaez, Marta (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ;
Davalos, Veronica (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ;
Ferrer, Gerardo (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ;
Mata, Caterina (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ;
Mereu, Elisabetta (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ;
Roué, Gaël (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ;
Valcárcel, David (Vall d'Hebron Institut d'Oncologia) ;
Molero, Antonieta (Hospital Universitari Vall d'Hebron) ;
Zamora, Lurdes (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ;
Xicoy, Blanca (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ;
Palomo Sanchís, Laura (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ;
Acha, Pamela (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ;
Manzanares Mileo, Ana (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ;
Tobiasson, Magnus (Karolinska Institutet (Estocolm, Suècia)) ;
Hellström-Lindberg, Eva (Karolinska Institutet (Estocolm, Suècia)) ;
Sole, F (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ;
Esteller, M (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras)
Alterations in epigenetic marks, such as DNA methylation, represent a hallmark of cancer that has been successfully exploited for therapy in myeloid malignancies. Hypomethylating agents (HMAs), such as azacitidine (AZA), have become standard-of-care therapy to treat myelodysplastic syndromes (MDS), myeloid neoplasms that can evolve into acute myeloid leukemia (AML). [...]
2024 -  10.1158/2767-9764.CRC-23-0389
Cancer Research Communications, Vol. 4 Núm. 2 (2024)
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2.
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4 p, 551.6 KB |
Regions of homozygosity confer a worse prognostic impact in myelodysplastic syndrome with normal karyotype
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Mallo, Maria del Mar (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ;
Tuechler, Heinz (Boltzmann Institute for Leukaemia Research and Hematology) ;
Arenillas, Leonor (Hospital del Mar (Barcelona, Catalunya)) ;
Raynaud, Sophie (Cote d'Azur University) ;
Cluzeau, Thomas (Cote d'Azur University) ;
Shih, Lee-Yung (Chang Gung University) ;
Tung-Liang, Chiang (Chang Gung University) ;
Ganster, Christina (University Medical Center Göttingen) ;
Shirneshan, Katayoon (University Medical Center Göttingen) ;
Haase, Detlef (University Medical Center Göttingen) ;
Mascaró, Martí (Hospital Universitari Son Llàtzer (Palma de Mallorca, Balears)) ;
Palomo Sanchís, Laura (Vall d'Hebron Institut d'Oncologia) ;
Cervera, José (Hospital Universitari i Politècnic La Fe (València)) ;
Such, Esperanza (Hospital Universitari i Politècnic La Fe (València)) ;
Trim, Nicola (Birmingham Women's Hospital) ;
Jeffries, Sally (Birmingham Women's Hospital) ;
Ridgway, Emma (Birmingham Women's Hospital) ;
Marconi, Giovanni (IRCCS Istituto Romagnolo per lo Studio dei Tumori (IRST) "Dino Amadori") ;
Martinelli, Giovanni (IRCCS Istituto Romagnolo per lo Studio dei Tumori (IRST) "Dino Amadori") ;
Sole, F (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ;
Universitat Autònoma de Barcelona
Half of the myelodysplastic syndromes (MDS) have normal karyotype by conventional banding analysis. The percentage of true normal karyotype cases can be reduced by 20-30% with the complementary application of genomic microarrays. [...]
2023 - 10.1002/jha2.651
EJHaem, Vol. 4 (february 2023) , p. 446-449
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3.
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15 p, 1.4 MB |
Association between Germline Single-Nucleotide Variants in ADME Genes and Major Molecular Response to Imatinib in Chronic Myeloid Leukemia Patients
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Estrada Barreras, Natalia (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ;
Zamora, Lurdes (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ;
Ferrer-Marín, Francisca (Hospital General Universitario Morales Meseguer (Múrcia)) ;
Palomo Sanchís, Laura (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ;
García, Olga (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ;
Vélez, Patricia (Hospital Duran i Reynals (Barcelona)) ;
De la Fuente, Iris (Hospital Universitari de Girona Doctor Josep Trueta) ;
Sagüés, Miguel (Hospital Universitari de Girona Doctor Josep Trueta) ;
Cabezón, Marta (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ;
Cortés, Montserrat (Hospital de Granollers, 08402 Granollers, Spain) ;
Vallansot, Rolando Omar (Hospital Universitari Joan XXIII de Tarragona) ;
Senín-Magán, María Alicia (Hospital Duran i Reynals (Barcelona)) ;
Boque, Concepcion (Hospital Duran i Reynals (Barcelona)) ;
Xicoy, Blanca (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ;
Universitat Autònoma de Barcelona
Imatinib is the most common first-line tyrosine kinase inhibitor (TKI) used to treat chronic-phase chronic myeloid leukemia (CP-CML). However, only a proportion of patients achieve major molecular response (MMR), so there is a need to find biological factors that aid the selection of the optimal therapeutic strategy (imatinib vs. [...]
2022 - 10.3390/jcm11206217
Journal of clinical medicine, Vol. 11 (october 2022)
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4.
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13 p, 3.0 MB |
Pathophysiologic and clinical implications of molecular profiles resultant from deletion 5q
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Ademà, Vera (Department of Translational Hematology and Oncology Research. Lerner Research Institute. Cleveland Clinic. Taussig Cancer Institute) ;
Palomo Sanchís, Laura (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ;
Walter, Wencke (Munich Leukemia Laboratory) ;
Mallo, Maria del Mar (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ;
Hutter, Stephan (Munich Leukemia Laboratory) ;
La Framboise, Thomas (Department of Genetics and Genome Sciences. Case Western Reserve University) ;
Arenillas, Leonor (Institut Hospital del Mar d'Investigacions Mèdiques) ;
Meggendorfer, Manja (Munich Leukemia Laboratory) ;
Radivoyevitch, Tomas (Department of Translational Hematology and Oncology Research. Lerner Research Institute. Cleveland Clinic. Taussig Cancer Institute) ;
Xicoy, Blanca (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ;
Pellagatti, Andrea (Blood Cancer UK Molecular Haematology Unit. Nuffield Division of Clinical Laboratory Sciences. Radcliffe Department of Medicine. University of Oxford and Oxford BRC Haematology Theme) ;
Haferlach, Claudia (Munich Leukemia Laboratory) ;
Boultwood, Jacqueline (University of Oxford. Radcliffe Department of Medicine) ;
Kern, Wolfgang (Munich Leukemia Laboratory) ;
Visconte, Valeria (Department of Translational Hematology and Oncology Research. Lerner Research Institute. Cleveland Clinic. Taussig Cancer Institute) ;
Sekeres, Mikkael (Leukemia Program. Department of Hematology and Medical Oncology. Cleveland Clinic. Cleveland Clinic Taussig Cancer Institute) ;
Barnard, John (Department of Quantitative Health Sciences. Cleveland Clinic. Lerner Research Institute) ;
Haferlach, Torsten (Munich Leukemia Laboratory) ;
Sole, F (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ;
Maciejewski, Jaroslaw (Department of Translational Hematology and Oncology Research. Lerner Research Institute. Cleveland Clinic. Taussig Cancer Institute)
Background: Haploinsufficiency (HI) resulting from deletion of the long arm of chromosome 5 [del(5q)] and the accompanied loss of heterozygosity are likely key pathogenic factors in del(5q) myeloid neoplasia (MN) although the consequences of del(5q) have not been yet clarified. [...]
2022 - 10.1016/j.ebiom.2022.104059
EBioMedicine, Vol. 80 (june 2022) , art. 104059
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5.
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6.
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17 p, 3.2 MB |
A Single-Run Next-Generation Sequencing (NGS) Assay for the Simultaneous Detection of Both Gene Mutations and Large Chromosomal Abnormalities in Patients with Myelodysplastic Syndromes (MDS) and Related Myeloid Neoplasms
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Liquori, Alessandro (Centro de Investigación Biomédica en Red de Cáncer) ;
Lesende, Iván (Universidade da Coruña) ;
Palomo Sanchís, Laura (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ;
Avetisyan, Gayane (Instituto de Investigación Sanitaria La Fe) ;
Ibáñez, Mariam (Centro de Investigación Biomédica en Red de Cáncer) ;
González-Romero, Elisa (Instituto de Investigación Sanitaria La Fe) ;
Boluda-Navarro, Mireia (Instituto de Investigación Sanitaria La Fe) ;
Morote-Faubel, Mireya (Instituto de Investigación Sanitaria La Fe) ;
Garcia-Ruiz, Cristian (Instituto de Investigación Sanitaria La Fe) ;
Martinez-Valiente, Cristina (Instituto de Investigación Sanitaria La Fe) ;
Santiago-Balsera, Marta (Instituto de Investigación Sanitaria La Fe) ;
Gomez-Seguí, Inés (Hospital Universitari i Politècnic La Fe (València)) ;
Sanjuan-Pla, Alejandra (Instituto de Investigación Sanitaria La Fe) ;
Sanz, Miguel A. (Instituto de Investigación Sanitaria La Fe) ;
Sanz, Guillermo (Hospital Universitari i Politècnic La Fe (València)) ;
Sole, F. (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ;
Such, Esperanza (Hospital Universitari i Politècnic La Fe (València)) ;
Cervera, José (Hospital Universitari i Politècnic La Fe (València)) ;
Universitat Autònoma de Barcelona
Chromosomal abnormalities and somatic mutations are found in patients with myelodysplastic syndromes (MDS) and myelodysplastic/myeloproliferative neoplasms (MDS/MPN) in around 50-80% of cases. The identification of these alterations is important for the accurate diagnosis and prognostic classification of these patients. [...]
2021 - 10.3390/cancers13081947
Cancers, Vol. 13 (april 2021)
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7.
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469.5 KB |
Targeted deep sequencing of CD34+ cells from peripheral blood can reproduce bone marrow molecular profile in myelodysplastic syndromes
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Martin, Roman (University Medical Center Göttingen) ;
Acha, Pamela (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ;
Ganster, Christina (University Medical Center Göttingen) ;
Palomo Sanchís, Laura (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ;
Dierks, Sascha (University Medical Center Göttingen) ;
Fuster-Tormo, Francisco (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ;
Mallo, Maria del Mar (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ;
Ademà, Vera (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ;
Gómez-Marzo, Paula (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ;
De Haro, Nuri (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ;
Solanes, Neus (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ;
Zamora, Lurdes (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ;
Xicoy, Blanca (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ;
Shirneshan, Katayoon (University Medical Center Göttingen) ;
Flach, Johanna (University Medical Center Göttingen) ;
Braulke, Friederike (University Medical Center Göttingen) ;
Schanz, Julie (University Medical Center Göttingen) ;
Kominowski, Arkadiusz (University Medical Center Göttingen) ;
Stromburg, Martin (University Medical Center Göttingen) ;
Brockmann, Alina (University Medical Center Göttingen) ;
Trümper, Lorenz (University Medical Center Göttingen) ;
Sole, F. (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ;
Haase, Detlef (University Medical Center Göttingen) ;
Universitat Autònoma de Barcelona
2018 - 10.1002/ajh.25089
American Journal of Hematology, Vol. 93 (april 2018) , p. E152-E154
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17 p, 2.3 MB |
Analysis of Intratumoral Heterogeneity in Myelodysplastic Syndromes with Isolated del(5q) Using a Single Cell Approach
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Acha, Pamela (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ;
Xicoy, Blanca (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ;
Mallo, Maria del Mar (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ;
Manzanares Mileo, Ana (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ;
Grau Cat, Javier (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ;
Marcé, Silvia (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ;
Granada, Isabel (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ;
Rodríguez-Luaces, Marta (Hospital de Tortosa Verge de la Cinta) ;
Diez-Campelo, María (Hospital Universitario de Salamanca) ;
Zamora, Lurdes (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ;
Sole, F. (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ;
Palomo Sanchís, Laura (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ;
Fuster-Tormo, Francisco (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ;
Universitat Autònoma de Barcelona
Myelodysplastic syndromes (MDS) are a heterogeneous group of hematological diseases. Among them, the most well characterized subtype is MDS with isolated chromosome 5q deletion (MDS del(5q)), which is the only one defined by a cytogenetic abnormality that makes these patients candidates to be treated with lenalidomide. [...]
2021 - 10.3390/cancers13040841
Cancers, Vol. 13 Núm. 4 (2021) , p. 841
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5 p, 653.8 KB |
Bone marrow clonogenic myeloid progenitors from NPM1-mutated AML patients do not harbor the NPM1 mutation : Implication for the cell-of-origin of NPM1+ AML
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Díaz de la Guardia, Rafael (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ;
González-silva, L. (Instituto de Biomedicina y Biotecnología de Cantabria. Universidad de Cantabria-CSIC) ;
López-Millán, Belén (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ;
Rodriguez-Sevilla, Juan Jose (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ;
Baroni, Matteo Libero (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ;
Bueno, Clara (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ;
Anguita, Eduardo (Instituto de Investigación Sanitaria del Hospital Clínico San Carlos) ;
Vives Polo, Susana (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ;
Palomo Sanchís, Laura (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ;
Lapillonne, Hélène (Sorbonne Université. INSERM. Centre de recherche Saint-Antoine CRSA. AP-HP. Hôspital Armand Trousseau. Haematology Laboratory) ;
Varela, Ignacio (Instituto de Biomedicina y Biotecnología de Cantabria. Universidad de Cantabria-CSIC) ;
Menéndez Bujan, Pablo (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ;
Universitat Autònoma de Barcelona
The cell-of-origin of NPM1- and FLT3-mutated acute myeloid leukemia (AML) is still a matter of debate. Here, we combined in vitro clonogenic assays with targeted sequencing to gain further insights into the cell-of-origin of NPM1 and FLT3-ITD-mutated AML in diagnostic bone marrow (BM) from nine NPM1+/FLT3-ITD (+/−) AMLs. [...]
2020 - 10.3390/genes11010073
Genes, Vol. 11 Núm. 1 (2020) , p. 73
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10.
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18 p, 292.6 KB |
Spanish Guidelines for the use of targeted deep sequencing in myelodysplastic syndromes and chronic myelomonocytic leukaemia
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Palomo Sanchís, Laura (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ;
Ibáñez, Mariam (Universidad CEU Cardenal Herrera) ;
Abáigar, María (Complejo Asistencial Universitario de Salamanca. Instituto de Investigación Biomédica de Salamanca) ;
Vázquez, Iria (Instituto de Investigación Sanitaria de Navarra) ;
Álvarez, Sara (Genómica y Medicina, S.L) ;
Cabezón, Marta (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ;
Tazón-Vega, Bárbara (Universitat Autònoma de Barcelona. Departament de Medicina) ;
Rapado, Inmaculada (Centro de Investigación Biomédica en Red de Cáncer) ;
Fuster-Tormo, Francisco (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ;
Cervera, José (Hospital Universitari i Politècnic La Fe (València)) ;
Benito, Rocío (Complejo Asistencial Universitario de Salamanca. Instituto de Investigación Biomédica de Salamanca) ;
Larrayoz, María J. (Instituto de Investigación Sanitaria de Navarra) ;
Cigudosa, Juan C. (Genómica y Medicina, S.L) ;
Zamora, Lurdes (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ;
Valcárcel, David (Universitat Autònoma de Barcelona. Departament de Medicina) ;
Cedena, María Teresa (Centro de Investigación Biomédica en Red de Cáncer) ;
Acha, Pamela (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ;
Hernández-Sánchez, Jesús M. (Universidad de Salamanca) ;
Fernández-Mercado, Marta (Universidad Pública de Navarra) ;
Sanz, Guillermo (Instituto de Salud Carlos III) ;
Hernández Rivas, Jesús María (Hospital Universitario de Salamanca) ;
Calasanz, M.J (Instituto de Investigación Sanitaria de Navarra) ;
Sole, F. (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ;
Such, Esperanza (Universidad CEU Cardenal Herrera)
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. [...]
2019 - 10.1111/bjh.16175
British Journal of Haematology, Vol. 188 (october 2019) , p. 605-622
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