Whole-Exome Sequencing of Acute Myeloid Leukemia

The Fanconi anemia (FA) pathway is a tumor-suppressive network comprised of at least 22 genes. We demonstrate that the FA pathway disruption sensitizes Acute Myeloid Leukemia (AML) cells to PLK1 inhibition (iPLK1). We obtained cryopreserved mononuclear cells (MNCs) derived from the bone marrow of 16 adult AML patients from the Indiana University Simon Comprehensive Cancer Center (IUSCCC) Biospecimen Collection and Banking Core as a panel for comparative volasertib (iPLK1) sensitivity assessment. Through whole-exome sequencing (WES), we identified multiple pathogenic mutations in FA pathway and FA pathway-associated genes. We found that higher FA pathway mutation burden correlated with sensitivity to volasertib.]]>
Samples were selected based on the availability of cryopreserved Bone Marrow aspirates from patients diagnosed with Acute Myeloid Leukemia (AML) during active disease. ]]>