[China Pharmaceutical Network Technology News] As an extremely complex and deadly disease, cancer is one of the most important areas of precision medicine. A recent study published in the journal Scientific Reports shows a revolutionary technology that addresses tumor heterogeneity. This technology enables unprecedented accurate tumor genetic analysis.


Accurate medical treatment refers to individualized diagnosis and treatment strategies that match the molecular biopathological characteristics of patients. It is considered to be the third medical revolution after empirical medicine and evidence-based medicine. Accurate medical treatment of tumors requires us to accurately understand the molecular map of patients' tumors. Although people already have powerful genetic analysis techniques (such as second-generation sequencing NGS), the heterogeneity of tumor samples greatly limits the analytical results of these techniques. It is well known that biopsy tissue samples are a mixture of normal cells and tumor cells, and there are also large differences between tumor cells.

A recent study published in the journal Scientific Reports showed a revolutionary technology that can address tumor heterogeneity. This method can separate 100% pure tumor and stromal cell populations from FFPE samples (formaldehyde fixed paraffin embedding). The researchers combined it with downstream second-generation sequencing to achieve an unprecedented and accurate analysis of tumor genetics.

At present, people mainly deal with sample heterogeneity by laser capture microdissection and FACS sorting. However, the accuracy and purity of these techniques often fall short of clinical use and are limited by sample size and sample quality. Researchers at Silicon Biosystems have developed a new process for the DEPArrayTM system to obtain 100% homogenous cell subsets from FFPE samples.

The researchers selected FFPE clinical samples of different sizes and different tumor cell contents, and used the DEPArrayTM cell sorting system to accurately separate markers and DNA content. Studies have shown that sequencing sorted cells can identify genetic variations in different types of cells (stromal cells, diploid tumor cells, or hyperdiploid tumor cells). However, sequencing unsorted cells can only obtain a fuzzy tumor genetic map, which cannot accurately identify somatic mutations or loss of heterozygosity (LOH).

The researchers then verified the copy number variation (CNV) and LOH events detected by the new DEPArrayTM process. Studies have shown that this method can further interpret the dual events occurring at the same site (such as mutations and LOH), and also for FFPE samples with low tumor cell content (5%), which is often difficult to perform accurate genetic analysis.

"Our approach allows NGS technology to perform its greatest power," said Nicolò Manaresi, who led the study. “Significantly simplifies data analysis and interpretation of results, accurately distinguishing between different types of genetic changes.” DEPArrayTM cell sorting technology combined with NGS analysis can fully reveal the genomic information of any FFPE sample, which is expected to revolutionize cancer translational medicine research. .

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