The prevalence of an internal tandem duplication (ITD) of the juxtamembrane domain-coding sequence and a missense mutation of D835 within the kinase domain of theFLT3gene is 15–35% and 5–10% of adults with acute myeloid leukemia (AML), respectively. In addition, point mutations, deletions, and insertions have been found in the juxtamembrane domain and in the other codons within the kinase domain, though these are less common. Several large-scale studies in well-documented patients published to date have demonstrated thatFLT3mutations are strongly associated with a poor prognosis and a high leukemia cell count in patients with AML, suggesting thatFLT3mutations are involved in disease progression. Because the detection ofFLT3mutations is fast, easy, and inexpensive, mutation analysis should be performed as a routine test. This chapter describes methods for detecting ITD and D835 mutations in theFLT3gene.
