On September 4, 2019 Sysmex Inostics’ novel SafeSEQ next-generation sequencing cell-free DNA technology, investigators from the Biomedical Research Institute of Malaga [(IBIMA)-CIMES-UMA, Malaga Spain] and collaborators reported have published the first pilot study to examine the use of a non-invasive liquid biopsy in early diagnosis of breast cancer (Press release, Sysmex Inostics, SEP 4, 2019, View Source [SID1234539286]). This study was unique in that the ctDNA analyses was performed before any invasive diagnostic procedure or treatment.
Schedule your 30 min Free 1stOncology Demo!
Discover why more than 1,500 members use 1stOncology™ to excel in:
Early/Late Stage Pipeline Development - Target Scouting - Clinical Biomarkers - Indication Selection & Expansion - BD&L Contacts - Conference Reports - Combinatorial Drug Settings - Companion Diagnostics - Drug Repositioning - First-in-class Analysis - Competitive Analysis - Deals & Licensing
Schedule Your 30 min Free Demo!
The SafeSEQ liquid biopsy technology has shown sensitivity down to five mutant molecules in a background of ten thousand normal ones (or 0.05% mutant allele frequency also known as MAF). Utilizing the genes TP53 and PIK3CA, which are commonly mutated in breast cancer, investigators compared the results of traditional standard-of-care tissue biopsy with those of liquid biopsy to determine the degree to which a highly sensitive assay might complement clinical assessment of disease. Of the 13 mutations detected in 10 of the primary breast cancer patients (out of a total of 29 samples) 8 mutations had a variant allele frequency less than 0.39%.
Comparing tissue to liquid biopsy, eight patients had detectable mutations in ctDNA with concordant results between tissue and plasma. Liquid biopsy testing with SafeSEQ detected an additional three patients with ctDNA mutations that were not present in the tissue. The breast cancer samples with detected ctDNA biomarkers were significantly associated with a lower patient age, a higher tumor size, and higher imaging score (indicating higher likelihood of neoplastic disease).
"We have shown in this study how important a sensitive technology is for early detection of breast cancer, as trace amounts of circulating tumor DNA may be lost by the detection method leading to false-negative results", said Dr. Emilio Alba, senior author of the Biomedical Research Institute of Malaga. "Studies of this kind have not been attempted before due to limitations of the technology, and it is great to see Sysmex Inostics leading the path forward for early detection."
The publication "Detection of TP53 and PIK3CA mutations in circulating tumor DNA using Next-Generation Sequencing in the screening process for early breast cancer diagnosis", was published online in the Journal of Clinical Medicine in August of 2019. View Source