DNA methylation epitypes highlight underlying developmental and disease pathways in acute myeloid leukemia.

ABSTRACT: Acute myeloid leukemia (AML) is a molecularly complex disease characterized by heterogeneous tumor genetic profiles and involving numerous pathogenic mechanisms and pathways. Integration of molecular data types across multiple patient cohorts may advance current genetic approaches for improved subclassification and understanding of the biology of the disease. Here, we analyzed genome-wide DNA methylation in 649 AML patients using Illumina arrays and identified a configuration of 13 subtypes (termed "epitypes") using unbiased clustering. Integration of genetic data revealed that most epitypes were associated with a certain recurrent mutation (or combination) in a majority of patients, yet other epitypes were largely independent. Epitypes showed developmental blockage at discrete stages of m

SUBMITTER: Giacopelli B 

PROVIDER: S-EPMC8092005 | biostudies-literature | 2021 May

REPOSITORIES: biostudies-literature