Liquid biopsy for the diagnosis of HPV-associated head and neck cancer.
Liquid biopsy for the diagnosis of HPV-associated head and neck cancer.
复制标题
用于诊断与HPV相关的头颈癌的液体活检。
DOI：
10.1002/cncy.22497
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发表时间：
2022-01
影响因子：
3.4
通讯作者：
Faden, Daniel L.
中科院分区：
文献类型：
--
作者：
Faden, Daniel L.
关键词：
人类乳头瘤病毒(HPV)相关的肛门、宫颈、口咽、阴茎、阴道和外阴癌占全球所有癌症的5%。在美国，人类乳头瘤病毒相关性口咽鳞状细胞癌(HPV+OPSCC)的发病率一直在迅速上升，已超过宫颈癌成为最常见的HPV相关恶性肿瘤，从1992年到2015年，55岁至的白人男性估计每年增长5%。1到2030年，HPV+OPSCC每年将有超过30,000例新的癌症诊断。1美国病理学家学会的临床实践指南目前推荐p16免疫组织化学作为诊断HPV+OPSCC的首选方法，因为它具有广泛的可得性、解释的重复性、低成本以及与高危人乳头瘤病毒(HR-HPV)感染的高度相关性。虽然p16过表达是口咽鳞状细胞癌(OPSCC)中HR-HPV的一种安全、有效和广泛使用的替代标志物，但它受到一些限制。首先，HPV+OPSCC的典型表现为大的囊性转移和小的原发肿瘤；因此，最常见的诊断方法是颈部淋巴结的细针吸取(FNA)。对于HPV+OPSCC的诊断，FNA由于细胞材料不足而固有失败率在20%至30%之间。2-6即使在有专门的头颈部放射科医生和外科医生进行超声引导的FNA和经验丰富的头颈部细胞病理学专家的大容量机构中，也有大约15%的病例需要重复活检(未公布的机构数据)。此外，在FNA标本上对p16的解释缺乏一致的指导方针，而且比组织解释更具变异性，这导致缺乏标准化和敏感性降低。为了确认HPV+OPSCC的诊断，通常需要重复2-6次FNA或随后的组织活检，这导致成本增加，诊断延误，患者受到多项侵入性手术的影响，以及诊断的不确定性增加。第二，虽然p16是一种相对
Human papillomavirus (HPV)–associated cancers of the anus, cervix, oropharynx, penis, vagina, and vulva constitute 5% of all cancers worldwide. In the United States, human papillomavirus–associated oropharyngeal squamous cell carcinoma (HPV+ OPSCC) has been rapidly increasing in incidence, surpassing cervical cancer as the most common HPV-associated malignancy, with an estimated annual increase of 5% in White men aged 55 to 64 years from 1992 to 2015. 1 By the year 2030, HPV+ OPSCC will account for more than 30,000 new cancer diagnoses per year. 1Clinical practice guidelines from the College of American Pathologists currently recommend p16 immunohistochemistry as the diagnostic of choice for HPV+ OPSCC because of its widespread availability, reproducibility of interpretation, low cost, and high correlation with high-risk human papillomavirus (HR-HPV) infection. Although p16 overexpression is a safe, effective, and widely used surrogate marker for HR-HPV in oropharyngeal squamous cell carcinoma (OPSCC), it suffers from a number of limitations. First, HPV+ OPSCC classically presents with large cystic nodal metastases and small primary tumors; thus, the most common diagnostic approach is fine-needle aspiration (FNA) of a neck lymph node. FNA has intrinsic failure rates due to inadequate cellular material for evaluation in the range of 20% to 30% for the diagnosis of HPV+ OPSCC. 2–6 Even at high-volume institutions with dedicated head and neck radiologists and surgeons performing ultrasoundguided FNA and experienced head and neck cytopathologists, repeat biopsy is necessary in~ 15% of cases (unpublished institutional data). Furthermore, the interpretation of p16 on FNA specimens lacks consensus guidelines and is more variable than tissue interpretation, and this has resulted in a lack of standardization and decreased sensitivity. 2–6 Repeat FNA or subsequent tissue biopsy is often required to confirm a diagnosis of HPV+ OPSCC, and this leads to increased costs, delays in diagnosis, patients being subjected to multiple invasive procedures, and increased diagnostic uncertainty. Second, although p16 is a relatively
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