作者: Rimma Berenstein
DOI: 10.4137/BMI.S22433
关键词:
摘要: Acute myeloid leukemia (AML) is a complex disease caused by deregulation of multiple signaling pathways. Mutations in class III receptor tyrosine kinases (RTKs) have been implicated alteration cell signals concerning the growth and differentiation leukemic cells. Point mutations, insertions, or deletions RTKs as well chromosomal translocations induce constitutive activation receptor, leading to uncontrolled proliferation undifferentiated blasts. Aberrations can occur all domains causing either ligand-independent mimicking activated conformation. The World Health Organization recommended including RTK mutations AML classification since their detection routine laboratory diagnostics major factor for prognostic stratification patients. Polymerase chain reaction (PCR)–based methods are well-validated fms-related kinase 3 (FLT3) easily be applied other RTKs. However, when methodological limitations reached, accessory techniques applied. For higher resolution more quantitative approach compared agarose gel electrophoresis, PCR fragments separated capillary electrophoresis. Furthermore, high-resolution melting denaturing high-pressure liquid chromatography reliable presequencing screening that reduce sample amount Sanger sequencing. Because traditional DNA sequencing time-consuming, next-generation (NGS) an innovative modern possibility analyze high samples simultaneously short period time. At present, standardized procedures NGS not established, but this barrier resolved, it will provide new platform rapid diagnostic patients with AML. In article, biological physiological role possible reviewed.