Detection of an Insertion in the ATXN3 Gene in Chronic Myeloid Leukemia Cases Using Exome Sequencing

Chronic myeloid leukemia (CML) is a common type of cancer. Leukemia is associated with diverse molecular and genetic changes, including loss and gain of chromosomes, gene deletions, duplications, point mutations, and gene fusions derived from chromosomal translocations. Advanced genetic tests are done to diagnose leukemia; however, many patients are not diagnosed because many of the symptoms are vague, unspecific, and referable to other diseases.

Following the extraction of genomic DNA from CML patient, we performed exome sequencing. Variants were detected via GATK software. Novel alterations in CML cases were then visualized in the integrated genome browser. To enrich our findings, we included exome sequencing data pertaining to 11 individuals. The data was deposited in the ENA database in our analysis. Afterwards, we verified insertion in the ATXN3 gene through performing PCR reactions for both healthy and CML cases.

We identified an alteration in the genomic sequence of the ATXN3 gene in the CML cases.

A correlation existed between insertion in the ATXN3 gene and positive CML cases. These findings might be conducive to the detection of CML at the early stages of the disease.