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Germline TP53 Mutations Causing Diamond–Blackfan Anemia: A French Report

Year: 2026

Type: article

Abstract: 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.

Source: Pediatric Blood & Cancer

DOI: 10.1002/1545-5017.70363