Seven Co-Occurring Mutations in a Patient with Acute Myeloid Leukemia Identified by Next-Generation Sequencing.

ABSTRACT

BACKGROUND: Most cases of acute myeloid leukemia (AML) have multiple driver mutations. METHODS: We report a rare AML case with seven mutations and an aggressive clinical course. RESULTS: A 69-year-old woman presented with nausea and vomiting. A bone marrow smear showed increased mye-loblasts, promonocytes, and monocytes. Immunophenotyping identified myeloid and monocytic markers. Fusion transcripts were not detected. Massive parallel sequencing showed seven variants in DNMT3A, FLT3, KRAS, NPM1, PTPN11, and TET2. Five days after beginning chemotherapy, the patient expired. CONCLUSIONS: These findings may provide insight into the link between multiple mutations and poor prognosis.