The TRUPCR® C-KIT Mutation Detection is a PCR-based in vitro diagnostic test designed to detect D816V in the C-KIT gene in genomic DNA extracted from peripheral blood of patients diagnosed with acute myelogenous leukaemia (AML) or other malignancy.
KIT is a receptor tyrosine kinase involved in proliferation, differentiation, and survival. KIT mutations affect predominantly exons 8 or 17, lead to a gain of function, and occur in 2%–14% of all cases of AML. The incidence of KIT mutations is higher in core-binding factor leukaemia, being found in about 7%–46% of cases. The presence of KIT mutations in core binding factor leukaemia is generally accepted to be associated with a worse prognosis. The D816V mutation results in an amino acid substitution at position 816 in KIT, from an aspartic acid (D) to a valine (V). This mutation is associated with intermediate prognosis in AML in patients with t(8;21), inv(16), or t(16;16) karyotype. In patients without KIT mutations, t(8;21), inv(16), and t(16;16) are associated with favourable prognosis.