Testing ASXL1 Gene Variants in Malignant Myeloid Diseases (With Case Studies)

Molecular and genetic tests for leukemias provide the advantage of understanding the clonal drivers at the time of presentation and during the course of disease evolution. It helps in making an informed treatment decision, risk stratification and prognostication in most of the leukemias.

ASXL1 gene is one of the commonly mutated genes in various malignant myeloid diseases. It is estimated that 16.2% of MDS, 34.5% of PMF and 30.3% of AML cases have ASXL1 mutations. Recent studies have shown the important role played by ASXL1 in hematopoiesis, particularly the myeloid lineage. Mutations in ASXL1 are associated with inferior leukemia free survival in MPNs. Understanding the nature of the ASXL1 gene and its function will aid in prognostication of various malignant myeloid diseases.

Dr. G Arun Kumar,

Ph.D (Genomics), Scientific Affairs Manager- MedGenome Labs Ltd

Dr. Rahul Bhargava,

Director & HOD – Haematology, Haemato Oncology and BMT, Fortis Memorial Research Institute, Gurugram