Characterization of Immunoglobulin Heavy Locus Rearrangements in Molecular Subtypes of Childhood B-Cell Precursor Acute Lymphoblastic Leukemia

Author(s)

Giusti, Guilherme Navarro Nilo ; Jotta, Patricia Yoshioka ; Lopes, Caroline de Oliveira ; Migita, Natacha Azussa ; de Azevedo, Amilcar Cardoso ; Brandalise, Silvia Regina ; Meidanis, Joao ; Yunes, Jose Andres

• Document type: Journal article
• Source: EJHAEM; v. 6, n. 2, p. 5-pg., 2025-04-01.

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. (AU)

• FAPESP's process: 24/01200-8 - Bioinformatics applied to diagnostic, follow-up, and treatment of pediatric Cancer
• Grantee: João Meidanis
• Support Opportunities: Regular Research Grants