ASXL1 mutation analysis is performed by next-generation sequencing of all coding exons of the ASXL1 gene.
ASXL1 is an epigenetic regulator of gene expression. ASXL1 gene mutations are detected in approximately 45% of chronic myelomonocytic leukemia (CMML), 11% of acute myeloid leukemia (AML), 34% of primary myelofibrosis (PMF), 4% of polycythemia vera (PV) and essential thrombocythemia (ET), and 14% of myelodysplastic syndromes (MDS). Mutations in ASXL1 are generally associated with aggressive disease and poor clinical outcome in these conditions. Mutations are also detected at low frequency (<5%) in a wide variety of solid tumors.
- Peripheral blood: 5 mL in EDTA tube.
- Bone marrow: 2 mL in EDTA tube.
- FFPE tissue: Paraffin block is preferred. Alternatively, send 1 H&E slide plus 5-10 unstained slides cut at 5 or more microns. Please use positively-charged slides and 10% NBF fixative. Do not use zinc fixatives.
Use cold pack for transport, making sure cold pack is not in direct contact with specimen.
- Gangat N, Patnaik MM, Tefferi A. Myelodysplastic syndromes: Contemporary review and how we treat. Am J Hematol. 2016;91:76–89.
- Gelsi-Boyer V, Brecqueville M, Devillier R et al. Mutations in ASXL1 are associated with poor prognosis across the spectrum of malignant myeloid diseases. J Hematol Oncol. 2012;5:12. doi:10.1186/1756-8722-5-12
- ASXL1 tissue distribution page. COSMIC website. https://cancer.sanger.ac.uk/cosmic/gene/analysis?ln=ASXL1#tissue. Accessed December 28, 2018.