Related Experiment Video
Updated: Feb 15, 2026

From a 2DE-Gel Spot to Protein Function: Lesson Learned From HS1 in Chronic Lymphocytic Leukemia
Published on: October 19, 2014
NOTCH1 and SF3B1 mutations in chronic lymphocytic leukemia with their clinical associations
Vanya Rashid Ahmed1, Fryad Majeed Rahman1,2
1Biology Department, College of Science, University of Sulaimani, Sulaymaniyah, Kurdistan Region, Iraq.
Abstract:
Chronic lymphocytic leukemia (CLL) exhibits heterogeneous clinical outcomes influenced by chromosomal aberrations and genetic mutations. NOTCH1 and SF3B1 mutations are critical prognostic markers linked to disease progression and therapy resistance. This study analyzed 60 CLL patients from Hiwa Hospital (Sulaymaniyah, Iraq). Hematological parameters were assessed, and genomic DNA was sequenced for NOTCH1 exon 34 and SF3B1 exons 15-16. In silico pathogenicity was predicted using I-Mutant and PolyPhen-2. Mutations were found in 23.3% of patients (14/60), including the recurrent NOTCH1 c.7541_7542delCT (p.P2514Rfs) (10%) and SF3B1 c.2098A > G (p.K700E) (6.6%). Two novel NOTCH1 variants (PX317668 and PX317669) were also identified. Mutated cases showed advanced Binet stages, elevated LDH, and reduced hemoglobin (HGB) and platelet (PLT) counts. These findings reveal a notable prevalence of NOTCH1 and SF3B1 mutations associated with adverse features, expanding the CLL mutational spectrum and offering valuable prognostic and therapeutic insights.
More Related Videos
09:02Immunoglobulin Gene Sequence Analysis In Chronic Lymphocytic Leukemia: From Patient Material To Sequence Interpretation
Published on: November 26, 2018
11:29HPLC-based Assay to Monitor Extracellular Nucleotide/Nucleoside Metabolism in Human Chronic Lymphocytic Leukemia Cells
Published on: July 20, 2016
Related Concept Videos
Mutations
Mutations
Chromosomal Alterations Are Large-Scale Mutations
While point mutations are changes in a single nucleotide in...
Chronic Kidney Disease II: Clinical Manifestations
Viral Mutations
Mutation, Gene Flow, and Genetic Drift
Associative Learning
Classical conditioning, also known...