Mutational status of EZH2 and CD79B hot spots in mature B-cell non-Hodgkin’s lymphomas: novel CD79B variations have been revealed

G.O. Cetin, I.C. Baris, V. Caner, B. Sarikepe, N. Sen Turk, E. Tepeli, S. Hacioglu, I. Sari, G. Bagci, A. Keskin

Department of Medical Genetics, Medical School of Pamukkale University, Denizli, Turkey. ocetin@pau.edu.tr

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• Oncology

OBJECTIVE: We aimed to determine the hot spot mutational frequencies of Enhancer of Zeste homolog 2 (EZH2) and cluster of differentiation 79B (CD79B) genes in a cohort of mature B-cell non-Hodgkin’s lymphomas.

PATIENTS AND METHODS: DNA samples from formalin-fixed and paraffin embedded (FFPE) tissues from a total of 37 patients with mature B-cell non-Hodgkin lymphomas were included in the study. Molecular genetic analysis was performed by direct sequencing of the DNA samples.

RESULTS: We analyzed formaldehyde fixed-paraffin embedded (FFPE) tumor tissue samples from 17 female and 20 male patients with a median age of 63.7 years at the time of diagnosis. None of the patients had previously reported hot spot mutations in EZH2 and CD79B, but previously unreported single nucleotide variations of CD79B were present in nine patients. rs779833118 was the most frequent variation (7/37 patients, 18.9%). A non-synonymous variation rs757407417, which could have a potentially damaging outcome, was detected in two patients.

CONCLUSIONS: None of the patients had well-known hot spot mutations in EZH2 and CD79B. However, we detected novel CD79B variations in mature B-cell non-Hodgkin’s lymphoma patients.

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