Iacobone Anna Daniela, Bottari Fabio, Radice Davide, Martella Silvia, Soru Pietro, Mauro Cristian, Scacchi Chiara, Di Tonno Clementina, Passerini Rita, Trovato Cristina
Preventive Gynaecology Unit, European Institute of Oncology IRCCS, Milan, Italy.
General Clinical Laboratory with Specialized Areas Clinical Pathology - Microbiology and Virology, European Institute of Oncology IRCCS, Milan, Italy; Clinical Pathology and Substance Abuse Laboratory, Centro Diagnostico Italiano, Milan, Italy.
J Clin Virol. 2025 Oct;180:105846. doi: 10.1016/j.jcv.2025.105846. Epub 2025 Jul 28.
To evaluate the clinical performance of an extended HPV genotyping assay for anal cancer screening in high-risk populations and investigate the prevalence of high-risk HPV (HR-HPV) genotypes in patients diagnosed with anal intraepithelial neoplasia grade 2 or worse (AIN2+).
A prospective cohort study was conducted at the European Institute of Oncology, Milan, Italy, from September 2022 to September 2024. A total of 202 high-risk individuals were enrolled. Anal samples were collected using a brush in ThinPrep PreservCyt from all subjects for HPV testing and genotyping; cytology was performed unless histology was already available. Associations between variables and sex were tested. Sensitivity, specificity, and predictive values for AIN2+ relative to HPV status were calculated. HR-HPV genotype prevalence was analysed in the overall population and among AIN2+ cases.
The final study population comprised 192 subjects due to 10 invalid samples. No significant associations were found between patient characteristics and sex. Sensitivity, specificity, positive predictive value (PPV), and negative predictive value (NPV) were 87.7 % (95 % CI: 76.3-94.9), 72.6 % (95 % CI: 64.3-79.9), 57.5 % (95 % CI: 46.4-68.0), and 93.3 % (95 % CI: 86.7-97.3), respectively. Approximately 30 % of subjects were diagnosed with AIN2+. HR-HPV genotype distribution was similar between women and men. HPV16 was predominant in AIN2+ cases (>70 %), followed by the 33/58 and 56/59/66 pools in women.
Extended HPV genotyping may support anal cancer screening strategies by providing a potential standalone tool for both screening and triage. Further studies are needed to confirm these findings in larger cohorts.
评估一种扩展的人乳头瘤病毒（HPV）基因分型检测方法在高危人群肛门癌筛查中的临床表现，并调查诊断为2级或更高级别肛门上皮内瘤变（AIN2+）患者中高危HPV（HR-HPV）基因型的流行情况。
2022年9月至2024年9月在意大利米兰欧洲肿瘤研究所进行了一项前瞻性队列研究。共纳入202名高危个体。使用ThinPrep PreservCyt刷从所有受试者收集肛门样本进行HPV检测和基因分型；除非已有组织学结果，否则进行细胞学检查。检验变量与性别之间的关联。计算AIN2+相对于HPV状态的敏感性、特异性和预测值。分析总体人群和AIN2+病例中HR-HPV基因型的流行情况。
由于10份样本无效，最终研究人群包括192名受试者。未发现患者特征与性别之间存在显著关联。敏感性、特异性、阳性预测值（PPV）和阴性预测值（NPV）分别为87.7%（95%置信区间：76.3-94.9）、72.6%（95%置信区间：64.3-79.9）、57.5%（95%置信区间：46.4-68.0）和93.3%（95%置信区间：86.7-97.3）。约30%的受试者被诊断为AIN2+。女性和男性之间HR-HPV基因型分布相似。HPV16在AIN2+病例中占主导地位（>70%），其次是女性中的33/58和56/59/66组合。
扩展的HPV基因分型可为肛门癌筛查策略提供支持，通过提供一种潜在的独立筛查和分流工具。需要进一步研究以在更大队列中证实这些发现。
