Minimal Residual Disease in a Novel Xenograft Model of RUNX1-mutated, Cytogenetically Normal Acute Myeloid Leukemia. Homo sapiens

RUNX1-mutated, cytogenetically normal acute myeloid leukemia (CN-AML) patients have a dismal prognosis with anthracycline/cytarabine-based chemotherapy. Using the CG-SH cells, a RUNX1-mutated AML cell line, we aimed to develop an in vivo model in which the nature of minimal residual disease in this molecular disease subset could be explored. Moreover, CG-SH has not been comprehensively examined for additional AML-associated mutations that might contribute to its biological properties. To better define the spectrum of potential driver mutations in CG-SH, whole exome sequencing (WES) was conducted. WES data was analyzed for variations in 56 genes known to be recurrently mutated in myeloid malignancies, including 54 that are part of the TruSight Myeloid Sequencing Panel (illumina) plus HNRNPK and FAM5C. Single nucleotide variations present in dBSNP and synonymous mutations were not considered as mutations. Mutations were confirmed by Sanger sequencing.