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
{"title":"小儿低倍半整倍体 B 细胞急性淋巴细胞白血病的 TP53 变异显示出不同的起源，并可能在缓解期作为造血克隆持续存在","authors":"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","doi":"10.1002/jha2.986","DOIUrl":null,"url":null,"abstract":"<p>Pediatric low-hypodiploidy B-cell acute lymphoblastic leukemia (LH-ALL) with <i>TP53</i> 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 <i>TP53</i> and the first case of the persistence of clonal hematopoiesis with the <i>TР53</i> gene mutation in the child during 3-year minimal residual disease-negative remission, similar to what has been described in adults.</p>","PeriodicalId":72883,"journal":{"name":"EJHaem","volume":"5 5","pages":"1010-1013"},"PeriodicalIF":0.0000,"publicationDate":"2024-08-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/jha2.986","citationCount":"0","resultStr":"{\"title\":\"TP53 variants underlying pediatric low-hypodiploidy B-cell acute lymphoblastic leukemia demonstrate diverse origins and may persist as a hematopoietic clone in remission\",\"authors\":\"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\",\"doi\":\"10.1002/jha2.986\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p>Pediatric low-hypodiploidy B-cell acute lymphoblastic leukemia (LH-ALL) with <i>TP53</i> 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 <i>TP53</i> and the first case of the persistence of clonal hematopoiesis with the <i>TР53</i> gene mutation in the child during 3-year minimal residual disease-negative remission, similar to what has been described in adults.</p>\",\"PeriodicalId\":72883,\"journal\":{\"name\":\"EJHaem\",\"volume\":\"5 5\",\"pages\":\"1010-1013\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2024-08-20\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://onlinelibrary.wiley.com/doi/epdf/10.1002/jha2.986\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"EJHaem\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://onlinelibrary.wiley.com/doi/10.1002/jha2.986\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"EJHaem","FirstCategoryId":"1085","ListUrlMain":"https://onlinelibrary.wiley.com/doi/10.1002/jha2.986","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
TP53 variants underlying pediatric low-hypodiploidy B-cell acute lymphoblastic leukemia demonstrate diverse origins and may persist as a hematopoietic clone in remission
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.
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