RSS-Feed abonnieren
DOI: 10.1055/a-2576-7496
Circulating Tumor DNA Testing for Detection and Surveillance of Sinonasal HPV-Associated Cancers
Abstract
Background
The incidence of human papilloma virus (HPV)-mediated head and neck (H/N) cancers has risen dramatically. While most HPV-associated H/N cancers are oropharyngeal squamous cell carcinoma (OPSCC), sinonasal squamous cell carcinoma (SNSCC) is the second most common. Recent studies highlight an increasing incidence of HPV-positive SNSCC. Circulating tumor HPV DNA (ctDNA) is a noninvasive tool that has become increasingly utilized to detect high-risk HPV genotypes in the setting of OPSCC, with recent studies reporting high sensitivity and specificity in both pretreatment detection and posttreatment surveillance in OPSCC. Only one study exists reporting its use for SNSCC and nasopharyngeal carcinoma, which was successful in pretreatment detection and identification of recurrence posttreatment.
Case Reports
We report two cases demonstrating the utility of ctDNA in HPV-mediated sinonasal malignancies. Case 1: 60-year-old male who presented with a large nasal cavity cancer. Pretreatment ctDNA testing yielded a positive tumor tissue modified viral (TTMV)-HPV DNA Score of 67, reflective of the normalized tumor tissue modified viral-HPV DNA fragments/mL of plasma, and pathology confirmed HPV+ SNSCC. Posttreatment surveillance with HPV ctDNA and endoscopy has shown no evidence of disease. Case 2 involves a 64-year-old male with HPV+ neuroendocrine carcinoma who developed recurrence. ctDNA testing, previously negative following initial treatment, scored 35 at recurrence, prompting salvage surgery and adjuvant chemoradiation.
Conclusion
These cases, along with prior studies, underscore the potential of ctDNA as a diagnostic and surveillance tool for sinonasal malignancies. Further multi-institutional prospective trials with larger cohorts are needed to validate its role in detection and surveillance.
Keywords
circulating tumor DNA - HPV - sinonasal carcinoma - sinonasal squamous cell carcinoma - liquid biopsyPublikationsverlauf
Eingereicht: 28. Februar 2025
Angenommen: 19. März 2025
Accepted Manuscript online:
08. April 2025
Artikel online veröffentlicht:
25. April 2025
© 2025. The Author(s). This is an open access article published by Thieme under the terms of the Creative Commons Attribution-NonDerivative-NonCommercial License, permitting copying and reproduction so long as the original work is given appropriate credit. Contents may not be used for commercial purposes, or adapted, remixed, transformed or built upon. (https://creativecommons.org/licenses/by-nc-nd/4.0/)
Georg Thieme Verlag KG
Oswald-Hesse-Straße 50, 70469 Stuttgart, Germany
-
References
- 1 Lechner M, Liu J, Masterson L, Fenton TR. HPV-associated oropharyngeal cancer: epidemiology, molecular biology and clinical management. Nat Rev Clin Oncol 2022; 19 (05) 306-327
- 2 Chan JK. Virus-associated neoplasms of the nasopharynx and sinonasal tract: diagnostic problems. Mod Pathol 2017; 30 (s1): S68-S83
- 3 Amanian A, Ishii M, Fakhry C, London Jr NR. Epidemiologic trends in human papillomavirus-associated sinonasal squamous cell carcinoma. JAMA Otolaryngol Head Neck Surg 2024; 150 (07) 609-618
- 4 Barlow J, Gilja S, Ferrandino RM. et al. Evaluating human papillomavirus testing, prevalence, and association with prognosis in head and neck squamous cell carcinoma by subsite: a national cancer database study. Am J Otolaryngol 2024; 45 (03) 104243
- 5 Costantino A, Haughey B, Zhu J. et al. Sinonasal squamous cell carcinoma in the United States: temporal and geographic patterns associated with HPV testing and positivity. Oral Oncol 2024; 154: 106855
- 6 Cabezas-Camarero S, Pérez-Segura P. Liquid biopsy in head and neck cancer: current evidence and future perspective on squamous cell, salivary gland, paranasal sinus and nasopharyngeal cancers. Cancers (Basel) 2022; 14 (12) 20220609
- 7 Gunning A, Kumar S, Williams CK. et al. Analytical validation of NavDx, a cfDNA-based fragmentomic profiling assay for HPV-driven cancers. Diagnostics (Basel) 2023; 13 (04) 20230214
- 8 Damerla RR, Lee NY, You D. et al. Detection of early human papillomavirus-associated cancers by liquid biopsy. JCO Precis Oncol 2019; 3: 20190403
- 9 Ferrandino RM, Chen S, Kappauf C. et al. Performance of liquid biopsy for diagnosis and surveillance of human papillomavirus-associated oropharyngeal cancer. JAMA Otolaryngol Head Neck Surg 2023; 149 (11) 971-977
- 10 Jakobsen KK, Bendtsen SK, Pallisgaard N. et al. Liquid biopsies with circulating plasma HPV-DNA measurements-a clinically applicable surveillance tool for patients with HPV-positive oropharyngeal cancer. Clin Cancer Res 2023; 29 (19) 3914-3923
- 11 Mijares K, Ferrandino R, Chai R. et al. Circulating tumor HPV DNA in patients with head and neck carcinoma: correlation with HPV genotyping. Am J Surg Pathol 2024; 48 (01) 80-87
- 12 Siravegna G, O'Boyle CJ, Varmeh S. et al. Cell-free HPV DNA provides an accurate and rapid diagnosis of HPV-associated head and neck cancer. Clin Cancer Res 2022; 28 (04) 719-727
- 13 Chera BS, Kumar S, Shen C. et al. Plasma circulating tumor HPV DNA for the surveillance of cancer recurrence in HPV-associated oropharyngeal cancer. J Clin Oncol 2020; 38 (10) 1050-1058
- 14 Naegele S, Efthymiou V, Das D. et al. Detection and monitoring of circulating tumor HPV DNA in HPV-associated sinonasal and nasopharyngeal cancers. JAMA Otolaryngol Head Neck Surg 2023; 149 (02) 179-181