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On August 28th, the international academic journal Molecular Cancer published an online report on the research paper "Hetgeneeroouss Tats et al. and circulating warranty s cys DNA" by Chen Jianfeng Research Group of the Institute of Biochemistry and Cell Biology of the Chinese Academy of Sciences and the Team of The Shanghai Chest Hospital.
the work systematically compared the mutation of peripheral blood ctDNA and tumor tissue in patients with lung cancer, revealing the complexity of tumor gene mutation detection.
traditional tumor tissue biopsy needs to be operated on to obtain the patient's tumor tissue, however, tissue biopsy in clinical practice often faces some difficulties, such as patients with advanced malignant tumor stoic tissue difficult to obtain.
especially for high-heterogeneous malignancies, tissue biopsies may only reflect local mutations in tumors, but not the overall mutation of patients. the development of liquid biopsy,
and represented by circulating tumor DNA (ctDNA) mutation detection, provides a non-invasive method for tumor gene mutation group detection, and can track tumor treatment status at any time.
however, several recent clinical evidence shows significant inconsistencies in genetic mutations between the paired tumor tissue and blood ctDNA samples, but also significantly different mutations in the same blood sample on different test platforms.
it is not clear whether this inconsistency stems from the tumor's biological characteristics, sample preparation conditions, or the difference in sequencing analysis techniques.
therefore, it is necessary to study the root causes of differences in tumor tissue and ctDNA mutations by using the next-generation sequencing (NGS) system based on the same technology to analyze the simultaneous lysy of the simultaneous collection of matching tumor tissue and peripheral blood ctDNA.
, Guo Qiaomei of Shanghai Chest Hospital and Wang Junlei, ph.d, Ph.D. student of Chen Jianfeng Research Group of The Institute of Biochemistry and Cells, and others evaluated the genetic mutation of tumor tissue and ctDNA in 56 non-small cell lung cancer (NSCLC) patients using the same technical principle, and compared the effects of different sample preparation conditions on ctDNA mutation detection.
found that the detection rate of ctDNA mutations in patients with early NSCLC and in patients with advanced NSCLC was 63.6% and 60%, respectively. the overall consistent rate of mutations and ctDNA samples in the ffPE tumor tissue samples paired
was 54.6% in early NSCLC patients and 80% in patients with advanced NSCLC.
also found that the use of paired fresh frozen tumor samples did not improve the consistency of mutation detection between tumor tissue and ctDNA.
it is worth noting that the treatment time of blood samples had a great effect on the consistency of tumor tissue and ctDNA mutation detection, and the treatment of blood samples 4 hours after blood extraction significantly reduced the rate of mutation detection in ctDNA.
, the consistency between tumor tissue and ctDNA-based genetic mutation detection results will be affected by a variety of factors, such as the biological characteristics of tumors, sample treatment conditions, different NGS platforms, etc.
simply improving the sensitivity of mutation detection can not solve the problem of inconsistent tumor tissue and ctDNA mutation detection results.
, therefore, the individual detection of peripheral blood ctDNA in many cases does not accurately reflect the mutation in tumor tissue, the patient's tumor tissue and ctDNA at the same time mutation testing is necessary.
the study used multiple PCR targetNGS library preparation techniques from Shanghai True Solid Biotech Co., Ltd.
the research was funded by the Chinese Academy of Sciences, the National Natural Science Foundation, the National Basic Research Program, the Chinese Academy of Sciences/National Bureau of Foreign Experts international cooperation projects, etc.
.