Bulk genotyping of AML samples at diagnosis and relapse, scRNA analysis at diagnosis, scRNAseq and genotyping analysis at day 28 after therapy, spatial transcriptomic analysis at day 0 and 28

The current classification of acute myeloid leukemias (AML) includes more than 20 different diseases, grouped based on their distinctive genomic characteristics, which reflect substantial heterogeneity. The rationale underlying this project is the idea that an effective diagnostic process and functional dissection of transcriptional heterogeneity at the single-cell level will lead to the identification of cell-intrinsic or cell-extrinsic biomarkers of response to novel therapies in order to improve patient care. In particular, with the study we present here, we intend to obtain data relating to the sub-classification of patients into genomic subgroups with biological and prognostic relevance. Genomic subgroups are categories into which patients affected by the same disease can be divided based on the genetic characteristics found in each patient. The study foresees that part of the biological sample, collected through bone marrow blood sampling, already provided for by clinical practice will be subjected to further analyses. Specifically, DNA and RNA sequencing analyses will be performed on the cells that will be isolated from the bone marrow blood. The objective is to search for molecular markers that may allow better biological and prognostic classification of patients. Molecular markers are particular DNA sequences that, in our study, would enable the classification of patients into subgroups.