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Leo I. Gordon, MD, FACP


Genetic and Molecular Profiling of Primary Mediastinal LBCL Identifies Probable Pathogenesis

By: Vanessa A. Carter, BS
Posted: Thursday, July 14, 2022

A study conducted by Inna A. Kamaeva, MD, of the National Medical Research Centre for Oncology, Rostov-on-Don, Russian Federation, and colleagues aimed to identify signaling pathways and previously undescribed mutations in primary mediastinal large B-cell lymphoma (LBCL) that may potentially offer new therapeutic insight. Presented during the 2022 American Society of Clinical Oncology (ASCO) Annual Meeting (Abstract e19580), the outcomes of this trial did, in fact, identify polymorphisms and mutated genes related to signaling pathways of this disease that may serve as therapeutic targets.

This study focused on tumor specimens from 23 patients with primary mediastinal LBCL that were examined via next-generation sequencing of 77 genes. The American College of Medical Genetics and Genomics and Association of Molecular Pathology recommendations were used to identify the pathogenicity of nucleotide substitutions. Data processing and the identification of clinically significant mutations were carried out using the AVENIO Oncology Analysis Software. Genetic material was assessed for clinically significant mutations among the following databases: COSMIC, The Cancer Genome Atlas, Exac, Single Nucleotide Polymorphism Database, 1000 Genomes, and SnpEff.

Notably, targeted high-performance sequencing of the 23 primary mediastinal LBCL samples detected a total of nine gene-polymorphisms. These aberrations affected genes ALK, TP53, CCND3, RNF43, PIK3CA, FGFR3, SMO, MET, and EZH2, which were previously undescribed for this disease. Furthermore, the study authors interpreted signal pathways that were related to the altered genes.

Disclosure: The study authors reported no conflicts of interest.

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