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

Author:

Itov Albert1ORCID,Ilyasova Karina1ORCID,Soldatkina Olga1ORCID,Kazakova Anna1ORCID,Kozeev Vladimir1ORCID,Semchenkova Alexandra1ORCID,Osipova Elena1ORCID,Boichenko Elmira2,Volchkov Egor13ORCID,Popov Alexander1ORCID,Zerkalenkova Elena1ORCID,Roumiantseva Julia1,Novichkova Galina1ORCID,Karachunskiy Alexander1ORCID,Olshanskaya Yulia1ORCID

Affiliation:

1. Dmitry Rogachev National Medical Research Center of Pediatric Hematology Oncology, and Immunology (D. Rogachev NMRCPHOI) of Ministry of Healthсare of the Russian Federation Moscow Russia

2. Saint Petersburg Children's City Multidisciplinary Clinical Specialized Center of High Medical Technologies Saint Petersburg Russia

3. Laboratory of Single Cell Biology Research Institute of Molecular and Cellular Medicine RUDN University Moscow Russia

Abstract

AbstractPediatric 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.

Publisher

Wiley

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