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Serum, Cell-Free HPV-Human DNA Junction Detection and HPV Typing for Predicting and Monitoring Cervical Cancer Recurrence

Van Arsdale, A.; Meshcheryakova, O.; Gallego, S.; Maggi, E.; Harmon, B.; Van Doorslaer, K.; Kuo, D. Y.; Einstein, M. H.; Haas, B.; Montagna, C.; Lenz, J.

2024-09-16 oncology
10.1101/2024.09.16.24313343 medRxiv
Show abstract

Almost all cervical cancers are caused by human papillomaviruses (HPVs). In most cases, HPV DNA is integrated into the human genome. We found that tumor-specific, HPV-human DNA junctions are detectable in serum cell-free DNA of a fraction of cervical cancer patients at the time of initial treatment and/or at six months following treatment. Retrospective analysis revealed these junctions were more frequently detectable in women in whom the cancer later recurred. We also found that cervical cancers caused by HPV types outside of phylogenetic clade 9 had a higher recurrence frequency than those caused by 9 types in both our study and The Cancer Genome Atlas cervical cancer database, despite the higher prevalence of 9 types including HPV16 in cervical cancer. Thus, HPV-human DNA junction detection in serum cell-free DNA and HPV type determination in tumor tissue may help predict recurrence risk. Screening serum cell-free DNA for junctions may also offer an unambiguous, non-invasive means to monitor absence of recurrence following treatment.

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