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JAMA Oncology Diagnostic Test Interpretation
July 2017

FLT3 Mutation Testing in Acute Myeloid Leukemia

Author Affiliations
  • 1Department of Internal Medicine, University of Texas Southwestern Medical Center, Dallas
  • 2Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota
  • 3Division of Hematology, Department of Internal Medicine, Mayo Clinic, Rochester, Minnesota
JAMA Oncol. 2017;3(7):991-992. doi:10.1001/jamaoncol.2017.0257

A previously healthy man in his 50s presented with headache and blurry vision. Laboratory data are summarized in the Table. He was diagnosed with acute myeloid leukemia (AML) complicated by leukostasis. Bone marrow karyotyping revealed a normal karyotype; 46 XX [20]. Multigene polymerase chain reaction (PCR) testing of the bone marrow identified a 44–base pair (bp) internal tandem duplication in the FLT3 gene (OMIM 136351), with an allelic ratio of 0.57 (range, 0.01 to >100). No other mutations on the panel (CEBPA, NPM1, KIT, IDH1, and IDH2) were detected.

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