"In situ" MYC rearrangement and amplification as a secondary change in a case of High-grade B cell lymphoma with 11q aberration.

Gioia Di Stefano, Susanne Bens, Anja Fischer, Manuel Ciceri, Luca Nassi, Reiner Siebert, Raffaella Santi

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Article in Annals of hematology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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7 authors.

Gioia Di StefanoHistopathology and Molecular Diagnostics, Careggi University Hospital, Florence, Italy.

Susanne BensInstitute of Human Genetics, Ulm University and Ulm University Medical Center, Ulm, Germany.

Anja FischerInstitute of Human Genetics, Ulm University and Ulm University Medical Center, Ulm, Germany.

Manuel CiceriHematology Unit, Careggi Hospital and University of Florence, Florence, Italy.

Luca NassiHematology Unit, Careggi Hospital and University of Florence, Florence, Italy.

Reiner SiebertInstitute of Human Genetics, Ulm University and Ulm University Medical Center, Ulm, Germany.

Raffaella SantiPathology Section, Department of Health Sciences, University of Florence, Florence L.go Brambilla, 3, 50134, Florence, Italy. raffaella.santi@unifi.it.

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6 · The paper itself

Abstract

High-grade B cell lymphoma with 11q aberration (HGBCL-11q) is an aggressive lymphoma with a germinal center (GC) B cells phenotype. It is characterized by a cytogenetic alteration on the long arm of chromosome 11, which includes proximal gains and telomeric losses. HGBCL-11q shares certain morpho-phenotypic and gene expression features with Burkitt lymphoma (BL) but lacks the typical IG::MYC translocation. The current classifications consider HGBCL-11q as MYC rearrangement negative lymphoma. In contrast, in BL the characteristic 11q aberration is recognized as a secondary event occurring during clonal evolution. An increasing number of aggressive GC B cell lymphomas exhibiting both the typical 11q aberration and MYC rearrangement at the initial diagnosis are reported mostly as HGBCL, NOS (not otherwise specified). However, there is limited data on the temporal relationship between MYC rearrangement and the 11q aberration in these instances. Here, we present a case of nodal HGBCL-11q that shows a focal area with elevated MYC protein expression and a copy number gain of a rearranged MYC locus. These findings suggest that MYC rearrangement can occur as a secondary event in HGBCL-11q.

Indexed as

Chromosome AberrationsChromosomes, Human, Pair 11Gene AmplificationGene RearrangementGenes, mycLymphoma, B-CellLymphoma, Large B-Cell, DiffuseProto-Oncogene Proteins c-mycHumansMaleMiddle AgedTranslocation, GeneticMYC protein, humanProto-Oncogene Proteins c-mycBurkitt lymphomaHigh-grade B cell lymphomaHigh-grade B cell lymphoma with 11q aberrationMYC

Identifiers

PMID40770078

DOI10.1007/s00277-025-06433-8

PMCPMC12552359

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