B HÜCRELİ NON-HODGKİN LENFOMADA DICER1 VE BAFF GEN MUTASYONLARININ ARAŞTIRILMASI

Year 2024, Volume: 7 Issue: 1, 8 - 16, 15.02.2024

Nurcan Cirak Demet Akdeniz Hülya Yazıcı

https://doi.org/10.26650/JARHS2023-1344811

Abstract

Amaç: DICER1 ve BAFF geni mutasyonlarının T hücreli lenfoma progresyonunda etkili olduğu bilinmektedir. Bu durum B hücreli lenfomaların progresyonunda da DICER1 ve BAFF genlerinin rolünün olabileceğini düşündürmüştür. DICER1 ve BAFF geninin ekspresyon ve mutasyonlarını araştıran birçok çalışma bulunmasına rağmen, B hücreli non-Hodgkin lenfoma progresyonunda tümör baskılayıcı etkisinin nasıl oluştuğu ile ilgili olarak yeterli bilgi bulunmamaktadır. Bu sebeple çalışmada, DICER1 ve BAFF genlerinin B-NHL gelişimindeki rolünün ne olduğunun belirlenmesi amaçlanmıştır.

Gereç ve Yöntem: Çalışmaya 1991-1997 yılları arasında İstanbul Üniversitesi, Onkoloji Enstitüsü, Klinik Onkoloji Anabilim Dalı’na başvurmuş ve B-NHL tanısı almış 60 hastaya ait DNA örnekleri dâhil edilmiştir. Kontrol grubu olarak hastalarla yaş, cinsiyet ve ırk olarak eşleştirilmiş 30 sağlıklı kişinin lenfositlerinden elde edilen DNA materyalleri kullanılmıştır. DICER1 geninde yer alan c.+3473A>G(rs3742330) polimorfizmi ile BAFF genindeki c.-871C>T(rs9514828) tek nükleotid polimorfizmi PCR-RFLP yöntemiyle incelenmiştir. Ayrıca DICER1 geninin 11. ve 25. ekzonları mutasyon varlığı açısından SANGER dizi analizi yöntemiyle değerlendirilmiştir. Kontrol ve hasta grubunun sonuçları polimorfizm ve mutasyon varlığı açısından Ki-kare ve Fisher testleriyle analiz edilmiştir.

Bulgular: DICER1 genindeki c.+3473A>G(rs3742330) ile BAFF genindeki c.-871C>T(rs 9514828) polimorfik bölgeleri hasta ve kontrol grubunda incelenmiş ancak istatistiksel olarak anlamlı bir ilişki bulunamamıştır. DICER1 geninin 11. ve 25. Ekzonları araştırıldığında ise yine hasta ve kontrol grubu arasında istatiksel olarak anlamlı bir ilişki bulunamamıştır (p>0,05).

Sonuç: Hasta ve kontrol grupları arasında bir farkın bulunmaması, B-NHL oluşumunda farklı genetik mekanizmaların etkisinin olabileceğini düşündürmektedir. Çalışmadaki popülasyon sayısının az olması, sonuçlar arasında anlamlı bir fark bulunamamasının nedenlerinden biridir. Daha geniş hasta ve kontrol grubunda ek çalışmalara ihtiyaç vardır.

Keywords

B hücreli non-Hodgkin lenfoma, DICER1, BAFF, mutasyon, SNP

Project Number

43912

INVESTIGATION OF DICER1 AND BAFF GENE MUTATIONS IN B-CELL NON-HODGKIN LYMPHOMA

Abstract

Objective: DICER1 and BAFF gene mutations are effective in T-cell lymphoma progression. Therefore, DICER1 and BAFF genes may have a role in the progression of B-cell lymphomas. For this reason, it was aimed to determine the role of DICER1 and BAFF genes in the development of B-NHL.

Materials and Methods: The study included DNA samples from 60 patients diagnosed with B-NHL who had applied to the Istanbul University,Institute of Oncology, Department of Clinical Oncology between 1991 and 1997. DNA materials obtained from lymphocytes of 30 healthy individuals matched with the patients in terms of age, gender, and race were used as a control group. The c.+3473A>G (rs3742330) polymorphism in the DICER1 gene and the c.-871C>T (rs9514828) single nucleotide polymorphism in the BAFF gene were examined using the PCR-RFLP method. In addition, the presence of mutations in the 11th and 25th exons of the DICER1 gene was evaluated by SANGER sequencing. The results of the control and patient groups were analyzed for polymorphism and mutation presence using Chi-square and Fisher tests.

Results: The polymorphic regions of c.+3473A>G(rs3742330) in the DICER1 gene and c.-871C>T (rs 9514828) in the BAFF gene were examined in the patient and control groups, but no statistically significant relationship was found. When the exon 11 and exon 25 of the DICER1 gene were investigated, no statistically significant relationship was found between the patient and control groups(p>0.05).

Conclusion: The absence of a difference between the patient and control groups suggests that different genetic mechanisms may be involved in the formation of B-NHL. The small population in the study is one of the reasons why no significant difference was found between the results. Additional studies are needed in larger patient and control groups.

Keywords

B-cell non-Hodgkin lymphoma, DICER1, BAFF, mutation, SNP

Supporting Institution

This study was supported by Istanbul University Scientific Research Projects Unit (BAP)

Project Number

43912

Thanks

This study was supported by Istanbul University Scientific Research Projects Unit (BAP)

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