FLT3 Mutation Detection
Initial Prognostication in AML
Genomic DNA is extracted and amplified in multiplex with primers targeting FLT3 mutations in AML
- FLT3 mutation detection by polymerase chain reaction (PCR) amplification of exon 14 ITDs and D835
- PCR products are EcoRV-digested and analyzed by capillary electrophoresis
- ITDs are reported with a signal ratio and D835 variants as Detected or Not Detected
FLT3 mutations have been identified in hematologic neoplasms, particularly in acute myeloid leukemia (AML) with an incidence of 20-30%. FLT3 internal tandem duplication (ITD) mutations have been associated with an unfavorable outcome. FLT3 tyrosine kinase domain mutations affecting codon D835 are also common (7%) but have a less clear prognostic significance. Early identification of these markers may provide better prognostication and aid in the determination of the most effective therapeutic regimen for the patient.
Indications for Ordering
- Refine classification and determine prognosis in patients with AML.
- Monitor diagnosis and prognosis in patients with documented FLT3-mutated disease.
- 50% of cases are cytogenetically normal AML (CN-AML) and are considered to be intermediate risk.
- Mortality varies significantly among patients within the intermediate risk group.
- Mutational testing may help in AML prognostication.
- Presence of mutations may alter therapeutic decisions.
- ITDs on exon 14/15; D835 mutation on exon 20
- Tyrosine kinase receptor regulates cell survival and maturation.
Last Update: January 2019