Molecular Profiling In Extramedullary Acute Myeloid Leukemia Reveals Distinct Subgroups Defined By Mutations In Kit And Runx1

Background: Between 2 to 23% of patients with acute myeloid leukemia manifest extramedullary involvement including myeloid sarcoma. While the genomic landscape of AML and the respective clinical and outcome correlations are well characterized, our understanding of the molecular underpinnings of extramedullary AML remains limited. Various cytogenetic abnormalities have been described in association with extramedullary AML, including core binding factor (CBF) translocations t(8;21) and inv(16). Recent studies have also applied targeted gene sequencing approaches (21 to 39 genes) in small patient cohorts (6-18) to generate limited mutational profiles of extramedullary AML [Li et al. Leukemia 2015; Pastoret et al. Leukemia & Lymphoma 2016; Kashofer et al. Leukemia & Lymphoma]. Here we utilize a comprehensive next generation sequencing (NGS) panel interrogating 585 genes implicated in hematological malignancies in 17 patients and provide the most comprehensive mutational profile of extramedullary AML to date.