title: Mutational status of EZH2 and CD79B hot spots in mature B-cell non-Hodgkin's lymphomas: novel CD79B variations have been revealed.
abstract: 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.
  
  
  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.
authors.affiliation: Department of Medical Genetics, Medical School of Pamukkale University, Denizli, Turkey. ocetin@pau.edu.tr.
authors.forename: G O
authors.initials: GO
authors.lastname: Cetin
authors.forename: I C
authors.initials: IC
authors.lastname: Baris
authors.forename: V
authors.initials: V
authors.lastname: Caner
authors.forename: B
authors.initials: B
authors.lastname: Sarikepe
authors.forename: N
authors.initials: N
authors.lastname: Sen Turk
authors.forename: E
authors.initials: E
authors.lastname: Tepeli
authors.forename: S
authors.initials: S
authors.lastname: Hacioglu
authors.forename: I
authors.initials: I
authors.lastname: Sari
authors.forename: G
authors.initials: G
authors.lastname: Bagci
authors.forename: A
authors.initials: A
authors.lastname: Keskin
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D051925:CD79 Antigens / Q000235:genetics*; D015331:Cohort Studies; D000071221:Enhancer of Zeste Homolog 2 Protein / Q000235:genetics*; D005260:Female; D014644:Genetic Variation / Q000235:genetics*; D006801:Humans; D016393:Lymphoma, B-Cell / Q000175:diagnosis* / Q000235:genetics* / Q000473:pathology; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*
chemical_list: D051925:CD79 Antigens; C497883:CD79B protein, human; C498409:EZH2 protein, human; D000071221:Enhancer of Zeste Homolog 2 Protein