Genomic Sequencing and Identifying Driver Mutations in AML and MDS

Ilaria Iacobucci, PhD, staff scientist, St. Jude Children’s Research Hospital, discusses integrated transcriptomic and genomic sequencing to identify prognostic constellations of driver mutations in acute myeloid leukemia (AML) and myelodysplastic syndromes (MDS).

AML and MDS are a bionic expansion of myelodysplastic disorders. In the past decade, with the addition of intense sequencing, there has been more knowledge on the genetics of these diseases; however, there are still some limitations, says Iacobucci. Studies using targeted sequencing approaches are analyzing only certain subsets of subtypes, causing a need for discovering novel mutational patterns and gene expression clusters.

The study Iacobucci presented at the 2019 ASH Annual Meeting conducted an unbiased analysis of AML and MDS to identify the sequence of mutations and subgroup of cases that show a combination of mutations and genetic expression profiles. The use of a genome wide approach with standard conventional approaches allow for a better diagnosis and this study is important because some alterations are missed by standard clinical approaches, concludes Iacobucci.