A pediatric high-grade B-cell lymphoma with a rare complex cytogenetic profile: A case report
Abstract
Introduction: Pediatric B non-Hodgkin lymphoma (B-NHL) often presents with complex karyotypes (CK), co-occurring high-risk mutations, and treatment resistance, leading to poor outcomes. Case description: We describe a child with a CK including MYC::IGH translocation, MYC inversion, TP53 deletion, BCL6 gain, and BCL2 loss, exhibiting a high tumor burden and a partial response to standard therapy, requiring treatment intensification. Conclusion: This case emphasizes the critical role of comprehensive cytogenetic and molecular profiling to guide diagnosis, risk stratification, and therapy selection. Recognition of high-risk genetic features can inform early intensification or targeted approaches. Pediatric MYC -rearranged B-NHL with complex cytogenetics remains under-characterized but clinically aggressive, underscoring the need for multicenter studies to define its genetic spectrum, refine prognostic models, and optimize individualized treatment strategies.
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Authors: Valentina Monti, Daniele Lorenzini, Antonella Aiello, Enrico Di Oto, Martina Toma, Valeria Colombo, Giovanna Gattuso, Monica Terenziani, Maura Massimino, Elisabetta Schiavello
Institutions: University of Milan, Fondazione IRCCS Istituto Nazionale dei Tumori, University of Insubria