Mutation-based detection and monitoring of cell-free tumor DNA in peripheral blood of cancer patients

摘要: Prognosis of solid cancers is generally more favorable if the disease treated early and efficiently. A key to long cancer survival in radical surgical therapy directed at primary tumor followed by detection possible progression, with swift application subsequent therapeutic intervention reducing risk generalization. The conventional follow-up care based on regular observation markers combination computed tomography/endoscopic ultrasound/magnetic resonance/positron emission tomography imaging monitor potential progression. recent development methodologies allowing screening for a presence cell-free DNA (cfDNA) brings new viable tool management major cancers. It believed that cfDNA released from tumors primarily due necrotization, whereas origin nontumorous mostly apoptotic. process starts proper collection treatment blood isolation storage plasma. next important steps include extraction plasma its and/or quantification. To distinguish cfDNA, specific somatic mutations, previously localized tissue, are identified extracted cfDNA. Apart mutation approaches, several dedicated techniques have been presented detect low levels an excess (nonmutated) DNA, including real-time polymerase chain reaction (PCR), "BEAMing" (beads, emulsion, amplification, magnetics), denaturing capillary electrophoresis. Techniques facilitate mutant detection, such as mutant-enriched PCR COLD-PCR (coamplification lower denaturation temperature PCR), also applicable. Finally, number newly developed miniaturized single-molecule sequencing, promising future.