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DNA methylation loss promotes immune evasion of tumours with high mutation and copy number load
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Jung, H. (Department of Bio and Brain Engineering. KAIST) ;
Kim, H.S. (Division of Hematology/Oncology. Department of Medicine. Samsung Medical Center. Sungkyunkwan University School of Medicine) ;
Kim, J.Y. (Department of Bio and Brain Engineering. KAIST) ;
Sun, J.M. (Division of Hematology/Oncology. Department of Medicine. Samsung Medical Center. Sungkyunkwan University School of Medicine) ;
Ahn, J.S. (Division of Hematology/Oncology. Department of Medicine. Samsung Medical Center. Sungkyunkwan University School of Medicine) ;
Ahn, M.J. (Division of Hematology/Oncology. Department of Medicine. Samsung Medical Center. Sungkyunkwan University School of Medicine) ;
Park, K. (Division of Hematology/Oncology. Department of Medicine. Samsung Medical Center. Sungkyunkwan University School of Medicine) ;
Esteller, M. (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ;
Lee, S.H. (Department of Health Sciences and Technology. Samsung Advanced Institute of Health Science and Technology. Sungkyunkwan University) ;
Choi, J.K. (Penta Medix Co.. Ltd.) ;
Universitat Autònoma de Barcelona
Mitotic cell division increases tumour mutation burden and copy number load, predictive markers of the clinical benefit of immunotherapy. Cell division correlates also with genomic demethylation involving methylation loss in late-replicating partial methylation domains. [...]
2019 -  10.1038/s41467-019-12159-9
Nature communications, Vol. 10 Núm. 1 (january 2019) , p. 4278
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General information for patients and carers considering haematopoietic stem cell transplantation (HSCT) for severe autoimmune diseases (ADs) : A position statement from the EBMT Autoimmune Diseases Working Party (ADWP), the EBMT Nurses Group, the EBMT Patient, Family and Donor Committee and the Joint Accreditation Committee of ISCT and EBMT (JACIE)
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Jessop, H. (Department of Haematology. Sheffield Teaching Hospitals NHS Foundation Trust) ;
Farge, D. (Department of Internal Medicine. McGill University) ;
Saccardi, R. (Haematology Department. Careggi University Hospital) ;
Alexander, T. (Klinik fur Rheumatologie und Klinische Immunologie. Charite-Universitatsmedizin) ;
Rovira Tarrats , Montserrat (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ;
Sharrack, B. (Department of Neurology. Sheffield Neuroscience BRC. Sheffield Teaching Hospitals NHS Foundation Trust. University of Sheffield) ;
Greco, R. (Hematology and BMT Unit. San Raffaele Scientific Institute) ;
Wulffraat, N. (Divisie Kinderen. Cluster Immunologie. Reumatologie. Hematologie en Infectiologie. Wilhelmina Kinderziekenhuis) ;
Moore, J. (Department of Haematology. St Vincents Hospital Sydney) ;
Kazmi, M. (Kings Healthcare Partners. Department of Haematology. Guys Hospital) ;
Badoglio, M. (EBMT Paris study office/CEREST-TC. Department of Haematology. Saint Antoine Hospital - INSERM) ;
Adams, G. (EBMT Executive Office. Eddific Dr. Frederic Duran i Jorda. Passeig Taulat. 116. 08005) ;
Verhoeven, B. (EBMT Executive Office. Eddific Dr. Frederic Duran i Jorda. Passeig Taulat. 116. 08005) ;
Murray, J. (Christie Hospital NHS Foundation Trust) ;
Snowden, J.A. (Department of Haematology. Sheffield Teaching Hospitals NHS Foundation Trust) ;
Universitat Autònoma de Barcelona
Over the last 20 years, haematopoietic stem cell transplantation (HSCT) has been used to treat patients with severe autoimmune and inflammatory diseases whose response to standard treatment options has been limited, resulting in a poor long-term prognosis in terms of survival or disability. [...]
2019 - 10.1038/s41409-019-0430-7
Bone marrow transplantation, Vol. 54 Núm. 7 (january 2019) , p. 933-942
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3.
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The transcribed pseudogene RPSAP52 enhances the oncofetal HMGA2-IGF2BP2-RAS axis through LIN28B-dependent and independent let-7 inhibition
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Oliveira-Mateos, C. (Cancer Epigenetics and Biology Program (PEBC). Bellvitge Biomedical Research Institute (IDIBELL). L'Hospitalet de Llobregat) ;
Sánchez-Castillo, A. (Centro de Investigación Biomédica en Red de Cáncer (CIBERONC). Carlos III Institute of Health (ISCIII)) ;
Soler, M. (Cancer Epigenetics and Biology Program (PEBC). Bellvitge Biomedical Research Institute (IDIBELL). L'Hospitalet de Llobregat) ;
Obiols-Guardia, A. (Cancer Epigenetics and Biology Program (PEBC). Bellvitge Biomedical Research Institute (IDIBELL). L'Hospitalet de Llobregat) ;
Piñeyro, David (Cancer Epigenetics and Biology Program (PEBC). Bellvitge Biomedical Research Institute (IDIBELL). L'Hospitalet de Llobregat) ;
Boque-Sastre, R. (Cardiff School of Biosciences. Cardiff University) ;
Calleja-Cervantes, M.E. (Cancer Epigenetics and Biology Program (PEBC). Bellvitge Biomedical Research Institute (IDIBELL). L'Hospitalet de Llobregat) ;
Castro de Moura, M. (Cancer Epigenetics and Biology Program (PEBC). Bellvitge Biomedical Research Institute (IDIBELL). L'Hospitalet de Llobregat) ;
Martínez-Cardús, A. (Cancer Epigenetics and Biology Program (PEBC). Bellvitge Biomedical Research Institute (IDIBELL). L'Hospitalet de Llobregat) ;
Rubio, T. (Laboratory of Cancer Metabolism. ONCOBELL Program. Bellvitge Biomedical Research Institute (IDIBELL). L'Hospitalet de Llobregat) ;
Pelletier, J. (Laboratory of Cancer Metabolism. ONCOBELL Program. Bellvitge Biomedical Research Institute (IDIBELL). L'Hospitalet de Llobregat) ;
Martínez-Iniesta, M. (Program Against Cancer Therapeutic Resistance (ProCURE). ICO. IDIBELL. L'Hospitalet de Llobregat) ;
Herrero-Martín, D. (Sarcoma Research Group. ONCOBELL Program. Bellvitge Biomedical Research Institute (IDIBELL). L'Hospitalet de Llobregat) ;
Tirado, O.M. (Sarcoma Research Group. ONCOBELL Program. Bellvitge Biomedical Research Institute (IDIBELL). L'Hospitalet de Llobregat) ;
Gentilella, A. (Department of Biochemistry and Physiology. Faculty of Pharmacy. University of Barcelona (UB)) ;
Villanueva, A. (Program Against Cancer Therapeutic Resistance (ProCURE). ICO. IDIBELL. L'Hospitalet de Llobregat) ;
Esteller, M. (JInstitut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ;
Farré, L. (Laboratory of Experimental Pathology (LAPEX). Gonçalo Moniz Research Center. Oswaldo Cruz Foundation (CPQGM/FIOCRUZ)) ;
Guil, Sonia (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ;
Universitat Autònoma de Barcelona
One largely unknown question in cell biology is the discrimination between inconsequential and functional transcriptional events with relevant regulatory functions. Here, we find that the oncofetal HMGA2 gene is aberrantly reexpressed in many tumor types together with its antisense transcribed pseudogene RPSAP52. [...]
2019 - 10.1038/s41467-019-11910-6
Nature communications, Vol. 10 Núm. 1 (january 2019) , p. 3979
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Development of adaptive immune effector therapies in solid tumors
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Comoli, P. (Cell Factory and Pediatric Hematology Oncology. Fondazione IRCCS Policlinico San Matteo) ;
Chabannon, C. (Institut Paoli-Calmettes. Aix-Marseille University. INSERM CBT 1409. Centre for Clinical Investigation in Biotherapy) ;
Koehl, U. (Institute of Cellular Therapeutics. Hannover Medical School) ;
Lanza, F. (Hematology and Stem Cell Transplant. Romagna Transplant Network) ;
Urbano Ispizua, Álvaro (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ;
Hudecek, M. (Department of Medicine II. University Hospital Würzburg) ;
Ruggeri, A. (Department of Pediatric Hematology and Oncology. Bambino Gesù Children's Hospital) ;
Secondino, S. (Oncology Unit. Fondazione IRCCS Policlinico San Matteo. Department of Internal Medicine and Medical Therapy. University of Pavia) ;
Bonini, C. (Experimental Hematology Unit. Division of Immunology. Transplantation and Infectious Diseases. University Vita-Salute San Raffaele and Ospedale San Raffaele Scientific Institute) ;
Pedrazzoli, P. (Oncology Unit. Fondazione IRCCS Policlinico San Matteo. Department of Internal Medicine and Medical Therapy. University of Pavia) ;
Universitat Autònoma de Barcelona
State-of-the-art treatment strategies have drastically ameliorated the outcome of patients affected by cancer. However, resistant and recurrent solid tumors are generally nonresponsive to conventional therapies. [...]
2019 - 10.1093/annonc/mdz285
Annals of oncology, Vol. 30 Núm. 11 (november 2019) , p. 1740-1750
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GATA2 Promotes Hematopoietic Development and Represses Cardiac Differentiation of Human Mesoderm
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Castaño Cardoso, Julio (Center for Networked Biomedical Research on Bioengineering. Biomaterials. and Nanomedicine (CIBER-BBN)) ;
Aranda, S. (Center for Genomic Regulation (CRG). The Barcelona Institute of Science and Technology. Universitat Pompeu Fabra) ;
Bueno, Clara (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ;
Calero-Nieto, F.J. (Department of Hematology. Wellcome and MRC Cambridge Stem Cell Institute and Cambridge Institute for Medical Research. University of Cambridge) ;
Mejia-Ramirez, E. (Center of Regenerative Medicine in Barcelona (CMRB). Hospital Duran i Reynals) ;
Mosquera, J.L. (Bioinformatics Unit. Bellvitge Biomedical Research Institute (IDIBELL)) ;
Blanco, E. (Center for Genomic Regulation (CRG). The Barcelona Institute of Science and Technology. Universitat Pompeu Fabra) ;
Wang, X. (Department of Hematology. Wellcome and MRC Cambridge Stem Cell Institute and Cambridge Institute for Medical Research. University of Cambridge) ;
Prieto, Cristina (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ;
Zabaleta, L. (Laboratory of Hematological Diseases. Fundación Inbiomed) ;
Mereu, E. (CNAG-CRG. Center for Genomic Regulation (CRG). Barcelona Institute of Science and Technology (BIST)) ;
Rovira, M. (Center of Regenerative Medicine in Barcelona (CMRB). Hospital Duran i Reynals) ;
Jiménez-Delgado, S. (Center of Regenerative Medicine in Barcelona (CMRB). Hospital Duran i Reynals) ;
Matson, D.R. (Department of Cell and Regenerative Biology. UW-Madison Blood Research Program. Carbone Cancer Center. University of Wisconsin School of Medicine and Public Health) ;
Heyn, H. (Universitat Pompeu Fabra) ;
Bresnick, E.H. (Department of Cell and Regenerative Biology. UW-Madison Blood Research Program. Carbone Cancer Center. University of Wisconsin School of Medicine and Public Health) ;
Göttgens, Berthold (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ;
Di Croce, L. (Institució Catalana de Recerca i Estudis Avançats (ICREA)) ;
Menéndez, Pablo (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ;
Raya, A. (Institució Catalana de Recerca i Estudis Avançats (ICREA)) ;
Giorgetti, A. (Center of Regenerative Medicine in Barcelona (CMRB). Hospital Duran i Reynals) ;
Universitat Autònoma de Barcelona
In vertebrates, GATA2 is a master regulator of hematopoiesis and is expressed throughout embryo development and in adult life. Although the essential role of GATA2 in mouse hematopoiesis is well established, its involvement during early human hematopoietic development is not clear. [...]
2019 - 10.1016/j.stemcr.2019.07.009
Stem cell reports, Vol. 13 Núm. 3 (october 2019) , p. 515-529
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14 p, 2.0 MB |
Changes in long-range rDNA-genomic interactions associate with altered RNA polymerase II gene programs during malignant transformation
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Diesch, Jeannine (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ;
Bywater, M.J. (QIMR Berghofer Medical Research Institute) ;
Sanij, E. (Department of Pathology. University of Melbourne) ;
Cameron, D.P. (Sir Peter MacCallum Department of Oncology. University of Melbourne) ;
Schierding, W. (Liggins Institute. The University of Auckland) ;
Brajanovski, N. (Cancer Research Division. Peter MacCallum Cancer Centre) ;
Son, J. (Sir Peter MacCallum Department of Oncology. University of Melbourne) ;
Sornkom, J. (Sir Peter MacCallum Department of Oncology. University of Melbourne) ;
Hein, N. (ACRF Department of Cancer Biology and Therapeutics. John Curtin School of Medical Research. Australian National University) ;
Evers, M. (ACRF Department of Cancer Biology and Therapeutics. John Curtin School of Medical Research. Australian National University) ;
Pearson, R.B. (Department of Biochemistry and Molecular Biology. University of Melbourne) ;
McArthur, G.A. (Department of Medicine. St Vincent's Hospital. University of Melbourne) ;
Ganley, A.R.D. (School of Biological Sciences. The University of Auckland) ;
O'Sullivan, J.M. (Liggins Institute. The University of Auckland) ;
Hannan, R.D. (School of Biomedical Sciences. University of Queensland) ;
Poortinga, G. (Department of Medicine. St Vincent's Hospital. University of Melbourne) ;
Universitat Autònoma de Barcelona
The three-dimensional organization of the genome contributes to its maintenance and regulation. While chromosomal regions associate with nucleolar ribosomal RNA genes (rDNA), the biological significance of rDNA-genome interactions and whether they are dynamically regulated during disease remain unclear. [...]
2019 - 10.1038/s42003-019-0284-y
Communications Biology, Vol. 2 Núm. 1 (january 2019) , p. 39
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Unraveling the cellular origin and clinical prognostic markers of infant B-cell acute lymphoblastic leukemia using genome-wide analysis
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Agraz-Doblás, Antonio (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) ;
Rogers, R.B. (Department of Medicine. University of Cambridge. Cambridge Biomedical Campus) ;
Roy, A. (Department of Paediatrics. University of Oxford) ;
Schneider, P. (Princess Maxima Center for Pediatric Oncology) ;
Bardini, M. (Centro Ricerca Tettamanti. Department of Pediatrics. University of Milano Bicocca. Fondazione MBBM) ;
Ballerini, P. (Pediatric Hematology. A. Trousseau Hospital) ;
Cazzaniga, G. (Centro Ricerca Tettamanti. Department of Pediatrics. University of Milano Bicocca. Fondazione MBBM) ;
Moreno, T. (Instituto de Biomedicina y Biotecnologia de Cantabria (IBBTEC). Universidad de Cantabria-CSIC) ;
Revilla, C. (Instituto de Biomedicina y Biotecnologia de Cantabria (IBBTEC). Universidad de Cantabria-CSIC) ;
Gut, M. (Universitat Pompeu Fabra) ;
Valsecchi, M.G. (Interfant Trial Data Center. University of Milano-Bicocca) ;
Roberts, I. (MRC Molecular Haematology Unit. MRC Weatherall Institute of Molecular Medicine. University of Oxford) ;
Pieters, R. (Princess Maxima Center for Pediatric Oncology) ;
De Lorenzo, P. (Interfant Trial Data Center. University of Milano-Bicocca) ;
Varela, I. (Instituto de Biomedicina y Biotecnologia de Cantabria (IBBTEC). Universidad de Cantabria-CSIC) ;
Menéndez, Pablo (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ;
Stam, R.W. (Princess Maxima Center for Pediatric Oncology) ;
Universitat Autònoma de Barcelona
Bcell acute lymphoblastic leukemia is the commonest childhood cancer. In infants, B-cell acute lymphoblastic leukemia remains fatal, especially in patients with t(4;11), present in ~80% of cases. The pathogenesis of t(4;11)/KMT2A-AFF1 (MLL-AF4) infant B-cell acute lymphoblastic leukemia remains difficult to model, and the pathogenic contribution in cancer of the reciprocal fusions resulting from derivative translocated-chromosomes remains obscure. [...]
2019 - 10.3324/haematol.2018.206375
Haematologica, Vol. 104 Núm. 6 (2019) , p. 1176-1188
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11 p, 2.4 MB |
Amino acid substitutions at sugar-recognizing codons confer ABO blood group system-related α1,3 Gal(NAc) transferases with differential enzymatic activity
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Cid, Emili (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ;
Yamamoto, Miyako (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ;
Yamamoto, Fumiichiro (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ;
Universitat Autònoma de Barcelona
Functional paralogous ABO, GBGT1, A3GALT2, and GGTA1 genes encode blood group A and B transferases (AT and BT), Forssman glycolipid synthase (FS), isoglobotriaosylceramide synthase (iGb3S), and α1,3-galactosyltransferase (GT), respectively. [...]
2019 - 10.1038/s41598-018-37515-5
Scientific reports (Nature Publishing Group), Vol. 9 Núm. 1 (january 2019) , p. 846
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4 p, 972.8 KB |
Molecular portrait of high alpha-fetoprotein in hepatocellular carcinoma : implications for biomarker-driven clinical trials
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Montal, R. (Translational Research in Hepatic Oncology. Liver Unit. IDIBAPS. CIBERehd. Hospital Clínic. University of Barcelona) ;
Andreu-Oller, C. (Translational Research in Hepatic Oncology. Liver Unit. IDIBAPS. CIBERehd. Hospital Clínic. University of Barcelona) ;
Bassaganyas, L. (Translational Research in Hepatic Oncology. Liver Unit. IDIBAPS. CIBERehd. Hospital Clínic. University of Barcelona) ;
Esteban-Fabró, R. (Translational Research in Hepatic Oncology. Liver Unit. IDIBAPS. CIBERehd. Hospital Clínic. University of Barcelona) ;
Moran, S. (Cancer Epigenetics and Biology Program (PEBC). Bellvitge Biomedical Research Institute (IDIBELL). L'Hospitalet) ;
Montironi, C. (Translational Research in Hepatic Oncology. Liver Unit. IDIBAPS. CIBERehd. Hospital Clínic. University of Barcelona) ;
Moeini, A. (Translational Research in Hepatic Oncology. Liver Unit. IDIBAPS. CIBERehd. Hospital Clínic. University of Barcelona) ;
Pinyol, R. (Translational Research in Hepatic Oncology. Liver Unit. IDIBAPS. CIBERehd. Hospital Clínic. University of Barcelona) ;
Peix, J. (Translational Research in Hepatic Oncology. Liver Unit. IDIBAPS. CIBERehd. Hospital Clínic. University of Barcelona) ;
Cabellos, L. (Translational Research in Hepatic Oncology. Liver Unit. IDIBAPS. CIBERehd. Hospital Clínic. University of Barcelona) ;
Villanueva, A. (Liver Cancer Program. Division of Liver Diseases. Icahn School of Medicine at Mount Sinai) ;
Sia, D. (Liver Cancer Program. Division of Liver Diseases. Icahn School of Medicine at Mount Sinai) ;
Mazzaferro, V. (University of Milan and Gastrointestinal Surgery and Liver Transplantation Unit. Fondazione IRCCS. Istituto Nazionale dei Tumori) ;
Esteller, M. (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ;
Llovet, J.M. (Institució Catalana de Recerca i Estudis Avançats (ICREA)) ;
Universitat Autònoma de Barcelona
The clinical utility of serum alpha-fetoprotein (AFP) in patients with hepatocellular carcinoma (HCC) is widely recognised. However, a clear understanding of the mechanisms of AFP overexpression and the molecular traits of patients with AFP-high tumours are not known. [...]
2019 - 10.1038/s41416-019-0513-7
British Journal of Cancer, Vol. 121 Núm. 4 (13 2019) , p. 340-343
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15 p, 1.8 MB |
L-ferritin : One gene, five diseases; from hereditary hyperferritinemia to hypoferritinemia-report of new cases
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Cadenas, Beatriz (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ;
Fita-Torró, J. (BloodGenetics SL. Esplugues de Llobregat) ;
Bermúdez-Cortés, M. (Pediatric OncoHematology Service. Clinic University Hospital Virgen de la Arrixaca. Instituto Murciano de Investigación Biosanitaria (IMIB)) ;
Hernandez-Rodriguez, Inés (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ;
Fuster, J.L. (Pediatric OncoHematology Service. Clinic University Hospital Virgen de la Arrixaca. Instituto Murciano de Investigación Biosanitaria (IMIB)) ;
Llinares, M.E. (Pediatric OncoHematology Service. Clinic University Hospital Virgen de la Arrixaca. Instituto Murciano de Investigación Biosanitaria (IMIB)) ;
Galera, A.M. (Pediatric OncoHematology Service. Clinic University Hospital Virgen de la Arrixaca. Instituto Murciano de Investigación Biosanitaria (IMIB)) ;
Romero, J.L. (Biomedical Engineering Department. University of Texas at Austin) ;
Pérez-Montero, S. (BloodGenetics SL. Esplugues de Llobregat) ;
Tornador, C. (BloodGenetics SL. Esplugues de Llobregat) ;
Sánchez-Fernández, Mayka (Institut Germans Trias i Pujol) ;
Universitat Autònoma de Barcelona
Ferritin is a multimeric protein composed of light (L-ferritin) and heavy (H-ferritin) subunits that binds and stores iron inside the cell. A variety of mutations have been reported in the L-ferritin subunit gene (FTL gene) that cause the following five diseases: (1) hereditary hyperferritinemia with cataract syndrome (HHCS), (2) neuroferritinopathy, a subtype of neurodegeneration with brain iron accumulation (NBIA), (3) benign hyperferritinemia, (4) L-ferritin deficiency with autosomal dominant inheritance, and (5) L-ferritin deficiency with autosomal recessive inheritance. [...]
2019 - 10.3390/ph12010017
Pharmaceuticals, Vol. 12 Núm. 1 (2019) , p. 17
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