Background Early diagnosis and continuous monitoring are necessary for an efficient
management of cervical cancers (CC). Liquid biopsy, such as detecting circulating
tumor DNA (ctDNA) from blood, is a simple, non-invasive method for testing and monitoring
cancer markers. However, tumor-specific alterations in ctDNA have not been extensively
investigated or compared to other circulating biomarkers in the diagnosis and monitoring
of the CC. Therfore, Next-generation sequencing (NGS) analysis with blood samples
can be a new approach for highly accurate diagnosis and monitoring of the CC. Method
Using a bioinformatics approach, we designed a panel of 24 genes associated with CC
to detect and characterize patterns of somatic single-nucleotide variations, indels,
and copy number variations. Our NGS CC panel covers most of the genes in The Cancer
Genome Atlas (TCGA) as well as additional cancer driver and tumor suppressor genes.
We profiled the variants in ctDNA from 24 CC patients who were being treated with
systemic chemotherapy and local radiotherapy at the Jeonbuk National University Hospital,
Korea. Result Eighteen out of 24 genes in our NGS CC panel had mutations across the
24 CC patients, including somatic alterations of mutated genes (ZFHX3-83%,KMT2C-79%,
KMT2D-79%, NSD1-67%,ATM-38% andRNF213-27%). We demonstrated that theRNF213mutation
could be used potentially used as a monitoring marker for response to chemo- and radiotherapy.
Conclusion We developed our NGS CC panel and demostrated that our NGS panel can be
useful for the diagnosis and monitoring of the CC, since the panel detected the common
somatic variations in CC patients and we observed how these genetic variations change
according to the treatment pattern of the patient.
