Clinical molecular testing for ASXL1 c.1934dupG p.Gly646fs mutation in hematologic neoplasms in the NGS era.
ASXL1 (additional sex combs like 1) is a gene that is mutated in a number of hematological neoplasms.The most common genetic alteration is c.1934dupG p.Gly646fs.Previous publications have shown that ASXL1 mutations have a negative prognostic impact in patients with MDS and AML, however, controversy exists regarding the molecular testing of ASXL1 c.