Efficient Detection of BRAF Mutation in Plasma of Patients after Long-term Storage of Blood in Cell-Free DNA Blood Collection Tubes

[摘要] To the Editor:The improvement of sensitive techniques has allowed tumor-specific aberrations in circulating tumor DNA (ctDNA)1 to be detected, including mutations in oncogenes and tumor suppressor genes, microsatellite instability, and DNA methylation (1). Therefore, ctDNA is a potential alternative source of tumor DNA that could be used for noninvasive identification of biomarkers at various time points during the course of the disease. In this context, digital PCR has been used to detect BRAF (B-Raf proto-oncogene, serine/threonine kinase) mutations in ctDNA from melanoma patients treated with a BRAF inhibitor (2), showing that BRAF mutation detection in ctDNA is useful as a follow-up to treatment response in patients with advanced melanoma (2).Sensitive techniques such as allele-specific amplification, digital PCR, and next-generation sequencing are used in most studies, but preanalytical procedures are also important. It is now clear that plasma should be preferred (3). Blood samples should be processed in the hours immediately after collection to prevent release of genomic DNA from white blood cells, which …

[学科分类] 过敏症与临床免疫学