Year: 2026
Type: article
Study design: Observational Study
Abstract: Information about Diamond-Blackfan anemia syndrome (DBAS), a ribosomopathy associated with anemia, congenital anomalies and cancer predisposition is limited in adults. Using the French DBAS registry, 235 adult patients with DBAS were analyzed for hematological outcomes. At last follow-up, anemia, neutropenia, thrombocytopenia, and pancytopenia affected respectively 78%, 31%, 15%, and 11% of the patients. There was no severe aplastic anemia outside of clonal evolution. Among patients without DBAS-specific treatment (e.g., steroids or red blood cell transfusions), the incidence of anemia, neutropenia, and thrombocytopenia was 52%, 35%, and 10%, highlighting that treatment independence does not mean hematologic remission. Four patients developed myelodysplastic syndrome (MDS) or acute myeloid leukemia (AML), all associated with poor-risk features and dismal outcomes. Observed to expected ratios were 155 for MDS and 55.4 for AML, confirming a major risk-excess despite stringent criteria for MDS diagnosis. With a median follow-up of 32.2 years (IQR 26-44), overall survival (OS) was 98.0% (95% CI, 95.8-100), 90.6% (95% CI, 84.2-97.5), and 70.7% (95% CI, 57.3-87.2) at 30, 40, and 50 years respectively. Solid and hematologic cancers were the main cause of death. This study demonstrates, in a large cohort of adults with DBAS, that cytopenias beyond anemia are frequent and persistent. Myeloid neoplasms occur with a high incidence and dismal outcomes. These findings highlight the need for risk stratification, tailored surveillance, and optimized therapeutic strategies in this vulnerable population.
Source: American Journal of Hematology
DOI: 10.1002/ajh.70197
Authors: Nicolas Lecornec, Flore Sicre de Fontbrune, Edouard Forcade, Loïc Garçon, Louis Terriou, Pierre Cougoul, Karen Delavigne, Isabelle Marie, Isabelle Brindel, Éric Deconinck, Étienne Daguindau, Shanti Amé, Marie‐Pierre Ledoux, Laurence Sanhes, Stanislas Nimubona, Guy Leverger, Marianne de Montalembert, Régis Peffault de Latour, Jean‐Hugues Dalle, Pierre Fenaux, Lydie Da Costa, Thierry Leblanc
Institutions: Inserm, Université Paris Cité, Génomes, biologie cellulaire et thérapeutiques, Hôpital Robert-Debré, Groupe Hospitalo-Universitaire Paris Nord, Institut de recherche Saint-Louis, Assistance Publique – Hôpitaux de Paris, Hôpital Saint-Louis, Centre Hospitalier Universitaire de Bordeaux, Centre Hospitalier Universitaire Amiens-Picardie, Hématopoïèse et immunologie, Université de Picardie Jules Verne, Université de Lille, Centre Hospitalier Universitaire de Lille, Institut universitaire du cancer de Toulouse Oncopole, Université de Toulouse, Centre Hospitalier Universitaire de Besançon, Institut de Cancérologie Strasbourg, Centre Hospitalier de Perpignan, Centre Hospitalier Universitaire de Rennes, Hôpital Armand-Trousseau, Hôpital Necker-Enfants Malades, Université Paris-Saclay, Bicêtre Hospital, HIPI - Immunologie humaine, physiopathologie et immunithérapie
Language: English
Subfield: Genetics
Domain: Life Sciences
Open Access status: bronze
OpenAlex ID: W7118402276