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proLékaře.cz / Journals / Transfusion and Haematology Today / 2025 - Ahead of Print

MYC gene and its abnormalities with a focus on aggressive B-cell  lymphomas

Czech version

Authors: M. Vatolíková;  H. Urbánková
Authors‘ workplace: Hemato-onkologická klinika LF UP a FN Olomouc
Published in: Transfuze Hematol. dnes,31, 2025, No. Ahead of Print, p. 1-8.
Category: Review/Educational Papers
doi: https://doi.org/10.48095/cctahd2025prolekare.cz18

Overview

 The MYC gene encodes the Myc protein, which is one of the most important transcription factors. It regulates a wide spectrum of cellular functions, including proliferation, cellular differentiation, and apoptosis. Deregulation of the MYC gene occurs at various levels, and its overexpression is associated with a range of malignancies. Deregulation of the gene through chromosomal rearrangements is particularly characteristic of B-cell lymphomas and is usually accompanied by a more aggressive disease course, often with an unfavourable prognosis. B-cell lymphomas harbouring confirmed MYC gene rearrangements exhibit considerable variability in the breakpoints within the 8q24 locus. Various translocation partners are involved in these rearrangements, including both immunoglobulin (IG) genes and non-immunoglobulin (non-IG) genes. The involvement of IG genes as translocation partners of MYC is considered a negative prognostic factor. The prognosis of patients with MYC gene rearrangements is also significantly influenced by concurrent aberrations in other oncogenes. The presence or absence of rearrangements in the MYC, BCL2, and BCL6 genes, combined with morphological assessment, constitutes a defining criterion for the classification of aggressive B-cell lymphomas according to the 5th revised edition of the WHO Classification (2022). The most appropriate method for detecting these rearrangements is fluorescence in situ hybridisation (FISH), which can be performed on both fresh samples and formalin-fixed paraffin-embedded tissue sections. This review focuses on the physiological function of the MYC gene, mechanisms of its deregulation, types of chromosomal aberrations involving the MYC gene, and their role in the pathogenesis of malignancies, with an emphasis on B-cell lymphomas.

Keywords:

MYC gene – Burkitt lymphoma – diffuse large-cell B-lymphoma – high-grade B-cell lymphoma – fluorescence in situ hybridisation

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