The TRUPCR® FLT3 Mutation Detection is a PCR-based in vitro diagnostic test designed to detect internal tandem duplications (ITD) and tyrosine kinase domain (TKD) mutation (D835-I836) in the FLT3 gene in genomic DNA extracted from mononuclear cells obtained from peripheral blood of patients diagnosed with acute myelogenous leukaemia (AML). TRUPCR® FLT3 Mutation Detection Kit is a combination of conventional PCR and Real time PCR.
The FLT3 gene encodes a receptor tyrosine kinase (RTK) that plays a critical role in haematopoiesis and cell growth because it regulates diverse cellular processes such as proliferation, differentiation and apoptosis. The most common mutation in FLT3 involves internal tandem duplication (ITD) between exons 14 and 15 in the juxtamembrane domain, which varies in length and position of patient to patient. The main impact of FLT3-ITD is its association with high blast accounts, increased risk of relapse and decreased survival. The second common type of mutation in FLT3 is missense mutations in exon 20 of the activation loop (A-loop) in the tyrosine kinase domain (TKD). Almost all these mutations involve the substitution of an aspartate with a tyrosine at codon 835 (D835Y) by a point mutation (GAT→TAT). These mutations produce a conformational change in the protein, disrupting the energy balance required to stabilize the closed form, eliminating its autoinhibitory function that causes its constitutive activation.
