Analyzing The Mutations Of Notch1 And Sf3b1 Genes In Cases With CLL Detected Isolated 13q Deletion

Authors : Gülçin GÜNDEN, Sevgi IŞIK, Hava ÜSKÜDAR TEKE, Oğuz ÇİLİNGİR, Nur OGUZ DAVUTOGLU, Ebru ERZURUMLUOĞLU, Sinem KOCAGİL, Sevilhan ARTAN, Beyhan DURAK ARAS
Pages : 480-484
View : 33 | Download : 10
Publication Date : 2023-03-15
Article Type : Other Papers
Abstract :Chronic lymphocytic leukemia insert ignore into journalissuearticles values(CLL); is known as type of leukemia originating from clonal mature B lymphocytes and has genetic heterogeneity. Many studies have been done to clarify the genome of CLL. In these studies, delinsert ignore into journalissuearticles values(13q); is reported as the most common chromosomal aberration. Although this anomaly is associated with good prognosis when isolated, patients have clinical heterogeneity. In addition, in many gene mutations including TP53, NOTCH1 and SF3B1 gene mutations, poor prognosis has been identified. The prognostic significance of these genes has begun to be demonstrated. According to these data, we aimed to determine the mutation rate of NOTCH1 and SF3B1 genes and to investigate the prognostic effects insert ignore into journalissuearticles values(disease stages, TTFT and OS); in 43 cases with isolated delinsert ignore into journalissuearticles values(13q); by using FISH method. We investigated the most common mutations of NOTCH1 and SF3B1 gene in CLL by using Sanger sequencing method. While frameshift 7541_7542delCT mutation was detected in the NOTCH1 gene in 1 out of 42 CLL cases with clinical heterogeneity, mutation in the SF3B1 gene couldn’t be detected. As a result of our study, it was observed that NOTCH1 and SF3B1 gene mutations weren’t associated with isolated delinsert ignore into journalissuearticles values(13q); which is compatible with the literature data. Our study is the first study that evaluates NOTCH1 and SF3B1 gene mutations with prognostic parameters of isolated delinsert ignore into journalissuearticles values(13q); with CLL patients in the Turkish population. As a result; It was concluded that there may be different reasons responsible for the clinical heterogeneity of isolated delinsert ignore into journalissuearticles values(13q); cases and further studies are needed to reveal these reasons
Keywords : Del13q, KLL, NOTCH1, Sanger, SF3B1

ORIGINAL ARTICLE URL