TP53 variants underlying pediatric low‐hypodiploidy B‐cell acute lymphoblastic leukemia demonstrate diverse origins and may persist as a hematopoietic clone in remission

Abstract

Abstract Pediatric low‐hypodiploidy B‐cell acute lymphoblastic leukemia (LH‐ALL) with TP53 variants has been proposed to be considered a manifestation of Li‐Fraumeni syndrome (LFS). However, our study demonstrates that of the majority the pathogenic variants in the TP53 gene are somatic (70.5%), and only 12.5% of patients with germline fulfilled the criteria of LFS. We also describe the first case of hypodiploid BCP‐ALL with a mosaic pathogenic mutation in TP53 and the first case of the persistence of clonal hematopoiesis with the TР53 gene mutation in the child during 3‐year minimal residual disease‐negative remission, similar to what has been described in adults.

Keywords

• clonal hematopoiesis
• LH‐ALL
• Li‐Fraumeni syndrome
• TP53