{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,4]],"date-time":"2026-10-04T02:55:43Z","timestamp":1791082543695,"version":"4.1.0"},"reference-count":29,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2026,1,7]],"date-time":"2026-01-07T00:00:00Z","timestamp":1767744000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2026,1,7]],"date-time":"2026-01-07T00:00:00Z","timestamp":1767744000000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J Hematol"],"published-print":{"date-parts":[[2026,4]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>Information about Diamond\u2010Blackfan 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\u2010up, 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\u2010specific 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\u2010risk features and dismal outcomes. Observed to expected ratios were 155 for MDS and 55.4 for AML, confirming a major risk\u2010excess despite stringent criteria for MDS diagnosis. With a median follow\u2010up of 32.2\u2009years (IQR 26\u201344), overall survival (OS) was 98.0% (95% CI, 95.8\u2013100), 90.6% (95% CI, 84.2\u201397.5), and 70.7% (95% CI, 57.3\u201387.2) at 30, 40, and 50\u2009years 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.<\/jats:p>","DOI":"10.1002\/ajh.70197","type":"journal-article","created":{"date-parts":[[2026,1,7]],"date-time":"2026-01-07T13:21:37Z","timestamp":1767792097000},"page":"687-696","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Hematologic Landscape of Adult Patients With Diamond\u2010Blackfan Anemia Syndrome"],"prefix":"10.1002","volume":"101","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-8073-4570","authenticated-orcid":false,"given":"Nicolas","family":"Lecornec","sequence":"first","affiliation":[{"name":"Department of Pediatric Hematology and Immunology Robert Debr\u00e9 Academic Hospital, GHU AP\u2010HP Nord Universit\u00e9 Paris Cit\u00e9  Paris France"},{"name":"Inserm Unit U944 Institut de Recherche Saint\u2010Louis  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2000-1556","authenticated-orcid":false,"given":"Flore Sicre","family":"de Fontbrune","sequence":"additional","affiliation":[{"name":"Hematology and Transplant Unit Saint\u2010Louis Hospital, AP\u2010HP and Universit\u00e9 Paris Cit\u00e9  Paris France"},{"name":"French National Reference Center for Aplastic Anemia and PNH, CeRAMIC, Saint\u2010Louis Hospital  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Edouard","family":"Forcade","sequence":"additional","affiliation":[{"name":"Hematology Unit Bordeaux University Hospital Haut\u2010L\u00e9v\u00eaque  Bordeaux France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lo\u00efc","family":"Gar\u00e7on","sequence":"additional","affiliation":[{"name":"Hematology Laboratory Amiens Picardie University Hospital, HEMATIM UR4666, Universit\u00e9 de Picardie Jules Verne  Amiens 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Saint\u2010Louis Hospital  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Isabelle","family":"Brindel","sequence":"additional","affiliation":[{"name":"French National Reference Center for Aplastic Anemia and PNH, CeRAMIC, Saint\u2010Louis Hospital  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"\u00c9ric","family":"Deconinck","sequence":"additional","affiliation":[{"name":"Department of Hematology Jean Minjoz University Hospital  Besancon France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"\u00c9tienne","family":"Daguindau","sequence":"additional","affiliation":[{"name":"Department of Hematology Jean Minjoz University Hospital  Besancon France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shanti","family":"Am\u00e9","sequence":"additional","affiliation":[{"name":"Department of Haematology Institut de Canc\u00e9rologie Strasbourg Europe (ICANS)  Strasbourg 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