Biased 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 clonotypes from BCP-ALL molecular subsets against 560 clonotypes from bone marrow donors. Leukemia clonotypes were enriched for segments in the KMT2A rearranged and B-other subtypes, while 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.
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http://dx.doi.org/10.1002/jha2.70003 | DOI Listing |
EJHaem
April 2025
Centro Infantil Boldrini Campinas São Paulo Brazil.
Biased 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 clonotypes from BCP-ALL molecular subsets against 560 clonotypes from bone marrow donors. Leukemia clonotypes were enriched for segments in the KMT2A rearranged and B-other subtypes, while was enriched in TCF3::PBX1.
View Article and Find Full Text PDFmBio
March 2025
Division of Infectious Diseases and International Health, University of Virginia School of Medicine, Charlottesville, Virginia, USA.
Unlabelled: T follicular helper (Tfh) cells are crucial for B cell activation and subsequent antibody production. This functionality is influenced by surface markers such as CD40L, a costimulatory factor which promotes B cell activation, and CD57, which is a well-known marker of senescence. This study examined age-specific differences in Tfh cell function in Bangladeshi and American children.
View Article and Find Full Text PDFAnnu Int Conf IEEE Eng Med Biol Soc
July 2024
Acute Leukemia is the most common hematologic malignancy in children and adolescents. A key methodology in the diagnostic evaluation of this malignancy is immunophenotyping based on Multiparameter Flow Cytometry (FCM). However, this approach is manual, and thus time-consuming and subjective.
View Article and Find Full Text PDFBr J Haematol
March 2025
Peter MacCallum Cancer Centre, Melbourne, Victoria, Australia.
Germline homozygous loss-of-function mutations in TET2 result in significant childhood immunodeficiency that resembles autoimmune lymphoproliferative syndrome and predisposes one to lymphoma. The implications of heterozygous variants are less well understood. We describe four patients with heterozygous germline loss-of-function TET2 mutations who presented with B-cell lymphoma on a background of chronic lymphadenopathy and autoimmune features.
View Article and Find Full Text PDFBlood Cancer J
February 2025
Leukaemia Translational Research Laboratory, WA Kids Cancer Centre, The Kids Research Institute Australia, Perth, WA, Australia.
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