Study of ASXL1 gene mutation in Chronic Myelogenous Leukemia

Background: ASXL1 gene has been recently considered as an important mutant gene in myeloid leukemias including Chronic Myelogenous Leukemia(CML). Mutation in this gene is associated with disease aggressiveness and poor clinical outcome, so its evaluation would guide us to remarkable conclusions in estimating disease prognosis.Considering that there are only a few known prognostic factors for CML and that the study of this gene has never been accomplished in Iranian population, we decided to study this mutation in our CML patients. Materials and methods: In this study 66 diagnosed CML patients were evaluated for the presence of ASXL1 mutation. For this reason a portion of exon 12 from ASXL1 gene(site that most mutations take place at), was amplified. This area was further studied by nucleotide sequencing. Result: Mutations in ASXL1 were detected in 4 CML patients(2 men and 2 women) with mean age of 44 years and SD of 17.85(6%) . Mutations were of two different types including frame shift mutation(c.1394DupG) and deletion(1900-1922del) and both were reported in previous studies. No significant difference was detected in patients with and without mutations, according to sex, age, WBC count, Platelet count and Hemoglobin levels. Conclusion: ASXL1 gene mutation is considered as a genetic abnormality in CML.According to the presence of this mutation in our patients at the time of diagnosis, it could be regarded as one of the primary genetic distortions in CML.

Keywords:

ASXL1 , mutation , leukemia