TP53 variants underlying pediatric low‐hypodiploidy B‐cell acute lymphoblastic leukemia demonstrate diverse origins and may persist as a hematopoietic clone in remission
Albert Itov,
Karina Ilyasova,
Olga Soldatkina,
Anna Kazakova,
Vladimir Kozeev,
Alexandra Semchenkova,
Elena Osipova,
Elmira Boichenko,
Egor Volchkov,
Alexander Popov,
Elena Zerkalenkova,
Julia Roumiantseva,
Galina Novichkova,
Alexander Karachunskiy,
Yulia Olshanskaya
Affiliations
Albert Itov
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
Karina Ilyasova
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
Olga Soldatkina
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
Anna Kazakova
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
Vladimir Kozeev
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
Alexandra Semchenkova
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
Elena Osipova
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
Elmira Boichenko
Saint Petersburg Children's City Multidisciplinary Clinical Specialized Center of High Medical Technologies Saint Petersburg Russia
Egor Volchkov
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
Alexander Popov
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
Elena Zerkalenkova
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
Julia Roumiantseva
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
Galina Novichkova
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
Alexander Karachunskiy
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
Yulia Olshanskaya
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
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.
