Clinical OMICS

JAN-FEB 2019

Healthcare magazine for research scientists, labs, pathologists, hospitals, cancer centers, physicians and biopharma companies providing news articles, expert interviews and videos about molecular diagnostics in precision medicine

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Page 39 of 51

38 Clinical OMICs January/February 2019 the same team explored ways to improve the current liquid biopsy approaches used to detect glioma, a relatively com- mon type of brain tumor that originates in the glial cells that surround and support neurons in the brain. Because the detection rate of cftDNA in the plasma of glioma patients is extremely low, detection in cere- brospinal fluid (CSF) has been an enticing alternative approach. However, detection of cftDNA in CSF comes with many challenges and depends on the tumor 's loca- tion and heterogeneity. Kevin Brindle, Ph.D., professor, department of biochem- istry, University of Cambridge, and co-senior author, told Clinical OMICs that "sequencing ctDNA has the potential to guide treatment, but this has been difficult in the case of gli- oma because of the low levels of ctDNA in the plasma." He added that "we have described methods that improve the sensitivity of ctDNA detection in the CSF, which bring us closer to the goal of using this approach to guide treatment of this deadly disease." The researchers used untargeted shallow whole-genome sequencing (sWGS) of cfDNA from the CSF of 13 glioma patients to identify SCNAs in five of the 13 patients. They also analyzed cfDNA size profiles to show an enrichment in frag- ments shorter than 145 bp in the patients which correlated with the presence of tumor-derived SCNAs in the CSF. "The potential for the use of cftDNA in patients with brain tumors is huge." He noted that he sees patients on a weekly basis whose experience could be improved through the analysis of cftDNA - from diagnosis to treatment plan- ning and monitoring," said Richard Mair, M.D., Division of Neurosurgery, University of Cambridge, co-first author on the study and a clinical neurosurgeon. Mair added that, "the main issue has been the difficulty in detecting cftDNA in this group of patients. We have shown that the use of a simple and cheap technique, sWGS, in the cerebrospinal fluid of glioma patients is feasible and, together with fragment size analysis, may enable the selec- tion of patients for more detailed genomic investigation." The authors noted that the combination of SCNAs and fragmentation analysis by sWGS of the cfDNA would pro- vide a rapid, low-cost screening method that could pro- vide tumor genomic information. In turn, this could target patients with high levels of cftDNA for larger-scale whole exome or whole-genome sequencing. And, extending the reach of the power of liquid biopsy to more patients with varying types of cancer could yield new diagnostics to advance this game-changing technology. (continued from previous page) Members of the Rosenfeld Lab at University of Cambridge. Konstanttin / iStock / Getty Images

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