<p>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 <a href="https://www.ncbi.nlm.nih.gov/gene/5347">PLK1</a> inhibition (iPLK1). We obtained cryopreserved mononuclear cells (MNCs) derived from the bone marrow of 16 adult AML patients from the <a href="https://cancer.iu.edu/">Indiana University Simon Comprehensive Cancer Center</a> (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.</p>

Whole-Exome Sequencing of Acute Myeloid Leukemia

Leukemia, Myeloid, Acute study with WXS data on dbGaP (16 participants)