Guilherme Navarro Nilo Giusti, Patrícia Yoshioka Jotta, Caroline de Oliveira Lopes, Natacha Azussa Migita, Amilcar Cardoso de Azevedo, Sílvia Regina Brandalise, João Meidanis, José Andrés Yunes
{"title":"儿童b细胞前体急性淋巴细胞白血病分子亚型中免疫球蛋白重位点重排的特征","authors":"Guilherme Navarro Nilo Giusti, Patrícia Yoshioka Jotta, Caroline de Oliveira Lopes, Natacha Azussa Migita, Amilcar Cardoso de Azevedo, Sílvia Regina Brandalise, João Meidanis, José Andrés Yunes","doi":"10.1002/jha2.70003","DOIUrl":null,"url":null,"abstract":"<p>Biased <i>IGH</i> VDJ recombination has been previously described in childhood B-cell precursor acute lymphoblastic leukemia (BCP-ALL), although its causes are not yet fully understood. This study assesses differential features in 565 <i>IGH</i> clonotypes from BCP-ALL molecular subsets against 560 clonotypes from bone marrow donors. Leukemia clonotypes were enriched for <i>IGHV6-1</i> segments in the KMT2A rearranged and B-other subtypes, while <i>IGHV3-23</i> was enriched in TCF3::PBX1. ETV6::RUNX1 presented a topological gap in the usage of central IGHV segments. BCP-ALL also presented shorter CDR3 regions, higher GC content, and lower productivity. Interestingly, productive clonotypes tended to be absent after induction therapy.</p>","PeriodicalId":72883,"journal":{"name":"EJHaem","volume":"6 2","pages":""},"PeriodicalIF":0.0000,"publicationDate":"2025-03-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/jha2.70003","citationCount":"0","resultStr":"{\"title\":\"Characterization of Immunoglobulin Heavy Locus Rearrangements in Molecular Subtypes of Childhood B-Cell Precursor Acute Lymphoblastic Leukemia\",\"authors\":\"Guilherme Navarro Nilo Giusti, Patrícia Yoshioka Jotta, Caroline de Oliveira Lopes, Natacha Azussa Migita, Amilcar Cardoso de Azevedo, Sílvia Regina Brandalise, João Meidanis, José Andrés Yunes\",\"doi\":\"10.1002/jha2.70003\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p>Biased <i>IGH</i> VDJ recombination has been previously described in childhood B-cell precursor acute lymphoblastic leukemia (BCP-ALL), although its causes are not yet fully understood. This study assesses differential features in 565 <i>IGH</i> clonotypes from BCP-ALL molecular subsets against 560 clonotypes from bone marrow donors. Leukemia clonotypes were enriched for <i>IGHV6-1</i> segments in the KMT2A rearranged and B-other subtypes, while <i>IGHV3-23</i> was enriched in TCF3::PBX1. ETV6::RUNX1 presented a topological gap in the usage of central IGHV segments. BCP-ALL also presented shorter CDR3 regions, higher GC content, and lower productivity. Interestingly, productive clonotypes tended to be absent after induction therapy.</p>\",\"PeriodicalId\":72883,\"journal\":{\"name\":\"EJHaem\",\"volume\":\"6 2\",\"pages\":\"\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2025-03-10\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://onlinelibrary.wiley.com/doi/epdf/10.1002/jha2.70003\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"EJHaem\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://onlinelibrary.wiley.com/doi/10.1002/jha2.70003\",\"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/jha2.70003","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
Characterization of Immunoglobulin Heavy Locus Rearrangements in Molecular Subtypes of Childhood B-Cell Precursor Acute Lymphoblastic Leukemia
Biased IGH VDJ recombination has been previously described in childhood B-cell precursor acute lymphoblastic leukemia (BCP-ALL), although its causes are not yet fully understood. This study assesses differential features in 565 IGH clonotypes from BCP-ALL molecular subsets against 560 clonotypes from bone marrow donors. Leukemia clonotypes were enriched for IGHV6-1 segments in the KMT2A rearranged and B-other subtypes, while IGHV3-23 was enriched in TCF3::PBX1. ETV6::RUNX1 presented a topological gap in the usage of central IGHV segments. BCP-ALL also presented shorter CDR3 regions, higher GC content, and lower productivity. Interestingly, productive clonotypes tended to be absent after induction therapy.