The role of the HPV Vaccine
A crucial tool in the fight against this tumor is the HPV vaccine, which is proving to be increasingly effective. The vaccine is highly efficient at preventing infection from high-risk HPV strains (particularly 16 and 18) that cause the majority of tumors. Recent studies in the United States have shown an 88% reduction in the prevalence of oral HPV infections in vaccinated young adults compared to those who are not vaccinated. Regarding oropharyngeal cancer, one study found that vaccination reduced cases of head and neck tumors by over 55% in vaccinated males compared to unvaccinated ones [3].
"Liquid biopsy": a biological solution
Researchers hypothesized that circulating tumor HPV DNA (ctHPVDNA), released from tumor cells into the bloodstream, could act as a biomarker for early diagnosis. To test this idea, they developed a new technology called HPV-DeepSeek. The study analyzed plasma samples from 28 patients who were later diagnosed with HPV-OPSCC and from a control group of 28 healthy individuals. The patient samples had been collected up to 10.8 years before the diagnosis.
The presence of ctHPVDNA in the blood years before clinical diagnosis is explained by the biology of cancer: the tumor takes a long time to create damage and symptoms that would lead to its detection, but its biological activity begins much earlier. Tumor cells, from their earliest stages of growth, are in a continuous cycle of division and death. When these cells die, they release fragments of their genetic material, including the viral DNA of HPV, into the bloodstream.
The discovery is revolutionary because the HPV-DeepSeek technology, enhanced by artificial intelligence, has a sensitivity capable of "capturing" and sequencing these fragments, thus making it possible to identify the tumor's presence years before it becomes clinically evident. The results were surprising: HPV-DeepSeek detected ctHPVDNA in the blood of 22 of the 28 patients (a sensitivity of 79%), up to 7.8 years before diagnosis. The specificity was 100%, as none of the samples from the control group were positive [1].
Machine learning and Artificial Intelligence for greater precision
A further step forward was the application of a machine learning model, a branch of artificial intelligence, which further improved the test's accuracy. This approach allowed for an increase in sensitivity to 96% and extended the period of diagnostic anticipation to 10.3 years [1].
Implications and future perspectives
This research demonstrates that ctHPVDNA can be detected in the blood years before the disease manifests. This paves the way for a potential non-invasive screening test for oropharyngeal cancer, which could identify at-risk patients in a very early phase. A timely diagnosis would allow for less invasive interventions, significantly improving patient outcomes and quality of life.
The researchers are now working to validate these results in a larger study, with the ultimate goal of making this discovery a standard clinical practice. The hope is that this new approach can one day save many lives, offering an additional weapon in the fight against cancer.
Bibliography
1. D. Das, S. Hirayama et al., Circulating tumor human papillomavirus DNA whole genome sequencing enables human papillomavirus-associated oropharynx cancer early detection, JNCI: Journal of the National Cancer Institute, djaf249, 2025.
2. AIOM - Airtum (dati aggiornati al 2023 per l'incidenza in Italia).
3. R. C. E. D'Souza, et al., Effectiveness of human papillomavirus vaccination against oropharyngeal cancer in a case-control study, Journal of Clinical Oncology, 2023.
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*Board Member, SRSN (Roman Society of Natural Science) Past Editor-in-Chief Italian Journal of Dermosurgery
