STUDY OF EZH2 GENE TYROSINE 641 MUTAION IN EGYPTIAN PATIENTS WITH DIFFUSE LARGE B CELL LYMPHOMA .

Document Type : Preliminary preprint short reports of original research

Authors

1 Department of Clinical and Chemical Pathology, Faculty of Medicine, Alexandria University

2 Department of Internal Medicine, Faculty of Medicine, Alexandria University

3 Department of clinical oncology and nuclear medicine, Faculty of medicine, Alexandria university.

4 clinical pathology, faculty of medicine , Alexandria

Abstract

Introduction: Diffuse large B-cell lymphomas (DLBCLs) are phenotypically and genetically heterogeneous. Gene-expression profiling has identified two subgroups of DLBCL; activated B-cell–like (ABC) and germinal-center Bcell–like (GCB) according to cell of origin. Diagnosis relies on a combination of morphologic findings (peripheral blood, bone marrow, or lymph node), immunohistochemistry, immunophenotyping, cytogenetics, fluorescence in situ hybridization (FISH) and molecular genetics. Enhancer of zeste homolog 2 (EZH2) is the catalytic subunit of the polycomb repressive complex 2 (PRC2) which implements transcriptional repression by trimethylation at lysine 27 of histone H3 (H3K27me3). It is important for normal immunoglobulin VDJ recombination in pre-B cells. EZH2 (Y641) mutations result in increased EZH2 stability and increased H3K27me3 activity, resulting in the repression of tumor suppressor genes. Its catalytic activity is closely correlated with tumor aggressiveness, drug resistance, and poor prognosis. Here, we studied 50 DLBCL biopsy samples using chain termination sequencing.

Aim: The aim of the study was to study the mutational status of enhancer of zeste homolog 2 (EZH2) gene tyrosine 641and its relation with different clinicopathological parameters in DLBCL patients.

Keywords

ALEXMED ePosters
Volume 4, Issue 4
December 2022
Pages 33-34

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