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循环肿瘤DNA检测用于鼻窦HPV相关癌症的检测和监测

Circulating Tumor DNA Testing for Detection and Surveillance of Sinonasal HPV-Associated Cancers.

作者信息

Adelman Avraham E, Motwani Kartik, Chapurin Nikita

机构信息

Department of Otolaryngology-Head and Neck Surgery, University of Florida, Gainesville, Florida, United States.

出版信息

J Neurol Surg Rep. 2025 Apr 25;86(2):e89-e91. doi: 10.1055/a-2576-7496. eCollection 2025 Apr.

DOI:10.1055/a-2576-7496
PMID:40290802
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC12031431/
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.

摘要

背景

人乳头瘤病毒(HPV)介导的头颈部(H/N)癌症发病率急剧上升。虽然大多数HPV相关的H/N癌症是口咽鳞状细胞癌(OPSCC),但鼻窦鳞状细胞癌(SNSCC)是第二常见的。最近的研究强调HPV阳性SNSCC的发病率在增加。循环肿瘤HPV DNA(ctDNA)是一种非侵入性工具,在OPSCC的背景下越来越多地用于检测高危HPV基因型,最近的研究报告其在OPSCC的治疗前检测和治疗后监测中具有高灵敏度和特异性。仅有一项研究报告了其在SNSCC和鼻咽癌中的应用,该研究在治疗前检测和治疗后复发识别方面取得了成功。

病例报告

我们报告两例病例,展示了ctDNA在HPV介导的鼻窦恶性肿瘤中的应用。病例1:一名60岁男性,患有巨大鼻腔癌。治疗前ctDNA检测得出肿瘤组织修饰病毒(TTMV)-HPV DNA评分为67,反映了每毫升血浆中标准化的肿瘤组织修饰病毒-HPV DNA片段,病理证实为HPV+ SNSCC。HPV ctDNA和内镜检查的治疗后监测未发现疾病迹象。病例2涉及一名患有HPV+神经内分泌癌且复发的64岁男性。ctDNA检测在初始治疗后先前为阴性,复发时评分为35,促使进行挽救性手术和辅助放化疗。

结论

这些病例以及先前的研究强调了ctDNA作为鼻窦恶性肿瘤诊断和监测工具的潜力。需要进一步开展多机构、更大队列的前瞻性试验,以验证其在检测和监测中的作用。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c03e/12031431/1d66e883dfc0/10-1055-a-2576-7496-i25feb0021-2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c03e/12031431/b2ba0a053e81/10-1055-a-2576-7496-i25feb0021-1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c03e/12031431/1d66e883dfc0/10-1055-a-2576-7496-i25feb0021-2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c03e/12031431/b2ba0a053e81/10-1055-a-2576-7496-i25feb0021-1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c03e/12031431/1d66e883dfc0/10-1055-a-2576-7496-i25feb0021-2.jpg

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