Related Experiment Video
Updated: May 8, 2025
Oncogenic Gene Fusion Detection Using Anchored Multiplex Polymerase Chain Reaction Followed by Next Generation Sequencing
Published on: July 5, 2019
The Fusion Genes and Their Relation with Genetic Variants in Egyptian AML Patients
Reham Abdel Haleem Abo Elwafa1, Magdy Mamdouh ElBordiny1, Akram Deghedy1
1Clinical and Chemical Pathology Department, Alexandria University, Alexandria, Egypt.
Background:
Acute myeloid leukemia (AML) is a clonal malignant disorder of the bone marrow. Genetic aberrations have an unequivocal role in disease pathogenesis. With the application of next-generation sequencing technologies (NGS), an enormous number of genetic fusions and variants has been detected. Their co-occurrence has an impact on patient`s prognosis. Therefore, our aim in this study was to survey fusion genes as well as their relation with genetic variants.
Subjects And Methods:
Targeted sequencing of the following fusion genes, in bone marrow aspirate samples, was performed; MECOM, MET, MLLT10, MLLT3, MYBL1, MYH11 and NTRK3. In addition sequencing for the hot spot regions in the following genes was done: FLT3, KIT, NRAS, KRAS, HRAS, using OncomineTM myeloid research panel on Ion S5 NGS system. The study was conducted on 24 denovo Egyptian AML patients of both sexes.
Results:
We identified one fusion in MYH11 gene (CBFB::MYH11) in two cases with four fusion transcripts of rare types. In addition, one novel breakpoint in MYH11 gene was identified. Also, about 337 variants in five genes were detected in all patients. Majority of them were benign. In the two positive cases for fusion; three pathogenic variants (2 KRAS, 1 NRAS), and one not-reported variant in FLT3 were reported.
Conclusions:
NGS has a major role in detection of genetic variants and fusions, which will have an impact on AML patient's prognosis.
Related Concept Videos
01:25Genetic Variation
Genes exist in different versions called alleles,...
02:32Exon Recombination
Exon shuffling follows “splice frame rules.” Each exon...
01:31Translation
Translation is the process of synthesizing proteins from the genetic information carried by messenger RNA (mRNA). Following transcription, it constitutes the final step in the expression of genes. This process is carried out by ribosomes, complexes of protein and specialized RNA molecules. Ribosomes, transfer RNA (tRNA), and other proteins produce a chain of amino acids—the polypeptide—as the end product of translation.
Translation Produces the Building Blocks of...
01:49Multiple Allele Traits
01:11Genome-wide Association Studies-GWAS
GWAS does not require the identification of the target gene involved in...
02:50Combination Therapies and Personalized Medicine
The combination of the drug acetazolamide and sulforaphane is a good example of combination therapy to treat cancer. The cells in the interior of a large tumor often die due to the hypoxic and...