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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. © 2016, Verduci Editore. All rights reserved.

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. © 2016, Verduci Editore. All rights reserved.

Bladder cancer is the one of the most common cancers worldwide and O6-Methylguanine DNA Methyltransferase (MGMT) promoter methylation might be contributing to clinicopathological features of the disease. We analyzed formalin-fixed, paraffin-embedded bladder tissue samples from 101 patients with urothelial carcinoma. All samples were analyzed by real-time methylation-specific PCR. MGMT promoter methylation was detected in 15 (14.9%) of the samples and was not significantly different between any of the groups, although the number of high grade tumors with MGMT promoter methylation was twice the number of low grade tumors. Methylation of MGMT in high grade tumors might play a role in aggressive proliferation of the tumor cells and a poor prognosis.

Yaşa bağlı makula dejenerasyonu (YBMD), özellikle gelişmiş ülkelerdeki geri dönüşümsüz görme kaybının en önemli nedenidir. YBMD gelişimindeki en önemli risk faktörü ileri yaştır. CFH genindeki rs1061170 polimorfizminin YBMD gelişimi açısından bağımsız bir risk faktörü olduğu gösterilmiştir. Bununla birlikte bu polimorfizme sahip hastalarda hastalığın gelişmemesi sonucunda YBMD ile ilişkili farklı genlerin araştırıldığı çalışmalarda, birçok gende YBMD?ye karşı koruyuculuk yaratabilecek polimorfizmler saptanmakla birlikte, YBMD ile ilişkili olabilecek yeni genler de araştırılmaya devam edilmektedir. Bu olgu-kontrol çalışmamızda, YBMD?ye sahip 87 hasta ve sağlıklı 80 bireyde, CFH genindeki rs1061170 polimorfizmine ek olarak, SKIV2L ve MYRIP genlerindeki rs429608 ve rs2679798 ve HIF1A genindeki rs11549465 ve rs11549467 polimorfizmlerinin dağılımlarını dizi analizi yöntemiyle belirledik. CFH genindeki rs1061170 polimorfizmi açısından en az 1 adet C alleli taşımanın YBMD gelişimini yaştan bağımsız olarak arttırdığını bulduk (OR= 2.42; 95%CI 1.22-4.81). Ek olarak, aynı polimorfizmdeki atasal T allelinin de YBMD?ye karşı koruyucu etkiye sahip olduğu görüldü (OR=0.53; 95%CI 0.34-0.83). Diğer genlerdeki polimorfizmlerin dağılımları açısından ise hasta ve kontrol gruplarımız arasında istatistiksel bir fark saptanmamıştır. Bu çalışma sonucunda CFH geni rs1061170 polimorfizminin ülkemiz popülasyonu için de YBMD ile ilişkili olduğu belirlendi. Araştırma sonucunda diğer genlerde yer alan polimorfizmlerin YBMD ile ilşkisi gösterilememiştir ancak bu konuda daha geniş gruplarla yapılacak çalışmalara gereksinim vardır. Age-related macular degeneration (AMD) is, especially in developed countries, one of the most important reasons of irreversible vision loss in advanced age. The most important risk factor is an advanced age. It has been shown that rs1061170 polymorphism in CFH gene is also an independent risk factor for AMD. However, disease-free patients with this polymorphism necessitate the investigation of other possible candidate genes. Thus, several number of polymorphisms both the ones with protective effect and the ones with causative effect have been identified and still being investigated. In this case-control study, we determine the distributions of rs1061170 (CFH), rs429608 (SKIV2L), rs2679798 (MYRIP) and rs11549465 and rs11549467 (HIF1A) polymorphisms via sequencing in 87 AMD patients and 80 healthy subjects. We found that having at least one C allele for rs1061170 polymorphism increases AMD risk independent from age (OR= 2.42; 95%CI 1.22-4.81). Furthermore, the ancestral T allele for rs1061170 polymorphism has protective effect for AMD (OR=0.53; 95%CI 0.34-0.83). There is no statistically significant difference for distributions of the other studied gene polymorphisms between patients and healthy subjects. As a conclusion, it has been identified that rs1061170 polymorphism of CFH gene is also associated with AMD in our population. Although no associations were documented for other polymorphisms, large-scale studies should be designed to clearly identify these associations in our population. 90