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A 20-year long term experience of the Italian Diamond-Blackfan Anaemia Registry: RPS and RPL genes, different faces of the same disease?
Quarello, Paola; Garelli, Emanuela; Carando, Adriana; Cillario, Rebecca; Brusco, Alfredo; Giorgio, Elisa; Ferrante, Daniela; Corti, Paola; Zecca, Marco; Luciani, Matteo; Pierri, Filomena; Putti, Maria C; Cantarini, Maria E; Farruggia, Piero; Barone, Angelica; Cesaro, Simone; Russo, Giovanna; Fagioli, Franca; Dianzani, Irma; Ramenghi, Ugo.
Afiliación
  • Quarello P; Paediatric Onco-Haematology, Stem Cell Transplantation and Cellular Therapy Division, Regina Margherita Children's Hospital, Turin, Italy.
  • Garelli E; Department of Public Health and Paediatric Sciences, University of Torino, Turin, Italy.
  • Carando A; Department of Public Health and Paediatric Sciences, University of Torino, Turin, Italy.
  • Cillario R; Department of Public Health and Paediatric Sciences, University of Torino, Turin, Italy.
  • Brusco A; Department of Medical Sciences, University of Torino, Turin, Italy.
  • Giorgio E; Medical Genetics Unit, "Città della Salute e della Scienza" Hospital, Turin, Italy.
  • Ferrante D; Department of Medical Sciences, University of Torino, Turin, Italy.
  • Corti P; Department of Translational Medicine, Unit of Cancer Epidemiology, CPO-Piemonte, University of Eastern Piedmont, Novara, Italy.
  • Zecca M; Paediatric Haematology, Fondazione MBBM, Monza, Italy.
  • Luciani M; Department of Paediatric Haematology/Oncology, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy.
  • Pierri F; Haemostasis and Thrombosis Center, Onco-Haematology Department, Bambino Gesù Paediatric Hospital, Rome, Italy.
  • Putti MC; Clinical and Experimental Unit, G. Gaslini Children's Hospital, Genoa, Italy.
  • Cantarini ME; Department of Women's and Children's Health, Paediatric Haematology-Oncology Unit, University of Padova, Padua, Italy.
  • Farruggia P; Paediatric Oncology and Haematology, U.O. Pediatria, Department of Women's and Children's Health, Policlinico Azienda Ospedaliera Universitaria Sant'Orsola Malpighi, Bologna, Italy.
  • Barone A; Paediatric Haematology and Oncology Unit, A.R.N.A. S. Ospedale Civico, Palermo, Italy.
  • Cesaro S; Department of Paediatric Onco-Haematology, University Hospital, Parma, Italy.
  • Russo G; Paediatric Haematology Oncology, Ospedale Donna Bambino, Azienda Ospedaliera Universitaria Integrata, Verona, Italy.
  • Fagioli F; Paediatric Haematology and Oncology Unit, Azienda Policlinico-Vittorio Emanuele, University of Catania, Catania, Italy.
  • Dianzani I; Paediatric Onco-Haematology, Stem Cell Transplantation and Cellular Therapy Division, Regina Margherita Children's Hospital, Turin, Italy.
  • Ramenghi U; Department of Public Health and Paediatric Sciences, University of Torino, Turin, Italy.
Br J Haematol ; 190(1): 93-104, 2020 07.
Article en En | MEDLINE | ID: mdl-32080838
Diamond-Blackfan anaemia (DBA) is a rare and heterogeneous disease characterised by hypoplastic anaemia, congenital anomalies and a predisposition for malignancies. The aim of this paper is to report the findings from the Italian DBA Registry, and to discuss the Registry's future challenges in tackling this disease. Our 20-year long work allowed the connection of 50 Italian Association of Paediatric Haematology and Oncology (AIEOP) centres and the recruitment of 283 cases. Almost all patients have been characterised at a molecular level (96%, 271/283), finding a causative mutation in 68% (184/271). We confirm the importance of determination of erythrocyte adenosine deaminase activity (eADA) and of ribosomal RNA assay in the diagnostic pipeline and characterisation of a remission state. Patients with mutations in large ribosomal subunit protein (RPL) genes had a significant correlation with the incidence of malformations, higher eADA levels and more severe outcomes, compared to patients with mutations in small ribosomal subunit protein (RPS) genes. Furthermore, as a consequence of our findings, particularly the incidence of malignancies and the high percentage of patients aged >18 years, we stress the importance of collaboration with adult clinicians to guarantee regular multi-specialist follow-up. In conclusion, this study highlights the importance of national registries to increase our understanding and improve management of this complex disease.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Anemia de Diamond-Blackfan Límite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Male / Middle aged País/Región como asunto: Europa Idioma: En Revista: Br J Haematol Año: 2020 Tipo del documento: Article País de afiliación: Italia Pais de publicación: Reino Unido
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Anemia de Diamond-Blackfan Límite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Male / Middle aged País/Región como asunto: Europa Idioma: En Revista: Br J Haematol Año: 2020 Tipo del documento: Article País de afiliación: Italia Pais de publicación: Reino Unido