多重突变——人乳头瘤病毒/p16阳性口咽癌囊外扩散的遗传标记

IF 1.7 4区医学 Q2 OTORHINOLARYNGOLOGY

Laryngoscope Investigative Otolaryngology Pub Date : 2025-02-04 DOI:10.1002/lio2.70094

Raphaela Graessle, Iris Piwonski, Cora Husemann, Karsten Kleo, Deema Sabtan, Achim Franzen, Heidi Olze, Ulrike Erben, Michael Hummel, Annekatrin Coordes

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引用次数: 0

摘要

在第8版TNM分类中，囊外扩散（ECS）成为口咽癌（OPSCC） UICC分期的一个因素。我们的目的是寻找ECS的遗传标记，并确定HPV/p16阳性和HPV/p16阴性病例之间的差异。方法对99例可手术的OPSCC进行靶向测序，并对临床资料进行回顾性分析。结果55例HPV/p16阳性，44例HPV/p16阴性。我们发现两组之间存在显著差异，特别是在TP53突变方面（p < 0.001）。除其他因素外，小原发肿瘤（p < 0.001），无ECS （p = 0.026）被确定为生存的预测因素。多突变与ECS发病率增加相关，特别是在HPV+/p16+病例中（p = 0.017）。PIK3CA突变在非吸烟者中更常见，尤其是在HPV - /p16 -患者中（p = 0.027）。PTEN突变-仅发生在HPV+/p16+组织中-降低了无病生存（DFS, p = 0.026）。结论HPV+/p16+ OPSCC多发突变与ECS发生风险增高有关。证据级别3

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Multiple Mutations—A Genetic Marker for Extracapsular Spread in Human Papillomavirus/p16-Positive Oropharyngeal Carcinoma

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Multiple Mutations—A Genetic Marker for Extracapsular Spread in Human Papillomavirus/p16-Positive Oropharyngeal Carcinoma

Background

In the 8th edition of the TNM classification, extracapsular spread (ECS) became a factor in classifying the UICC stage of oropharyngeal carcinomas (OPSCC). We aimed to find genetic markers for ECS and to identify differences between HPV/p16-positive and HPV/p16-negative cases.

Methods

We performed targeted next-generation sequencing on 99 samples of operable OPSCC and a retrospective analysis of clinical data.

Results

We included 55 HPV/p16-positive and 44 HPV/p16-negative patients. We found a significant difference between both groups, particularly in TP53 mutation (p < 0.001). Among other things, a small primary tumor (p < 0.001), no ECS (p = 0.026) were identified as predictors for survival. Multiple mutations were associated with an increased incidence of ECS, especially in HPV+/p16+ cases (p = 0.017). A mutation in PIK3CA occurred more frequently in nonsmokers, especially in HPV−/p16− patients (p = 0.027). A PTEN mutation—which only occurred in HPV+/p16+ tissues—reduced disease-free survival (DFS, p = 0.026).