TY - JOUR T1 - Germline TP53 Mutations Causing Diamond-Blackfan Anemia: A French Report. AU - Moisan,Rafael, AU - Da Costa,Lydie, AU - Nguyen,Ludivine David, AU - Chosseler,Heloise, AU - Riquet,Audrey, AU - Bruno,Benedicte, AU - Barbati,Melissa, Y1 - 2026/05/09/ PY - 2026/04/08/revised PY - 2025/12/20/received PY - 2026/04/10/accepted PY - 2026/5/9/medline PY - 2026/5/9/pubmed PY - 2026/5/9/entrez KW - DBAS‐Other KW - Diamond–Blackfan anemia KW - TP53 KW - hematopoietic stem cell transplantation KW - inherited bone marrow failure KW - neurological impairment SP - e70363 EP - e70363 JF - Pediatric blood & cancer JO - Pediatr Blood Cancer N2 - Diamond-Blackfan anemia is a rare congenital erythroblastopenia typically caused by mutations in ribosomal protein genes. Recently, gain-of-function mutations in TP53 have been identified as a novel cause of Diamond-Blackfan anemia. We report two French patients who both harbored a heterozygous TP53 deletion (NM_000546.5: c.1077delA; p.(Ser362AlafsTer8)). They exhibited normocytic anemia, transient neutropenia at presentation, and distinct neurological impairments. Neither patient responded to a corticosteroid trial. One patient underwent hematopoietic stem cell transplantation from a matched sibling donor and remained transfusion-independent at last follow-up. This study emphasizes the complexity of TP53-associated Diamond-Blackfan anemia syndrome and presents the only patient to date cured by hematopoietic stem cell transplantation. SN - 1545-5017 UR - https://www.unboundmedicine.com/prime/citation/42104732/Germline_TP53_Mutations_Causing_Diamond-Blackfan_Anemia:_A_French_Report. DB - PRIME DP - Unbound Medicine ER -