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":"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}
引用次数: 0
Abstract
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.