Department of Experimental Clinical Oncology, Aarhus University Hospital, Aarhus, Denmark.
Department of Oncology, Copenhagen University Hospital, Copenhagen, Denmark.
Head Neck. 2024 Oct;46(10):2532-2539. doi: 10.1002/hed.27750. Epub 2024 Mar 25.
In head and neck squamous cell carcinomas (HNSCC), there is no clinically available method to separate distant metastases (DMs) from SCC secondary primary tumors. The study aimed to assess the genetic relationship in paired tumor samples.
Patients with pairs of solid biopsies from the primary HNSCC and suspected DMs were identified (2007-2017). Targeted next-generation sequencing of 22 genes was applied, including TP53, supplemented with human papillomavirus (HPV) genotyping.
Of 55 pairs obtained, 33 were successfully analyzed. Distant biopsies included lung, liver, and bone. A genetic match was found in 23/33 (70%) patients, primarily with identical TP53 mutations or HPV genotypes. In 10/33 patients (30%), the genetic relationship was absent, all with lung involvement. In patients with no lung involvement, 8/8 had a match.
One-third of patients with DMs in HNSCC lack a genetic relationship with the primary tumors. The risk of misclassification is most prominent for patients with lung involvement.
在头颈部鳞状细胞癌（HNSCC）中，尚无临床可用的方法将远处转移（DMs）与 SCC 继发性原发性肿瘤区分开来。本研究旨在评估配对肿瘤样本中的遗传关系。
确定了 2007 年至 2017 年间具有原发性 HNSCC 和疑似 DMs 的成对实体活检的患者。对 22 个基因进行了靶向下一代测序，包括 TP53，并补充了人乳头瘤病毒（HPV）基因分型。
共获得 55 对，33 对成功分析。远处活检包括肺、肝和骨。在 23/33（70%）患者中发现了遗传匹配，主要是具有相同的 TP53 突变或 HPV 基因型。在 10/33 名患者（30%）中，遗传关系不存在，所有患者均有肺部受累。在无肺部受累的患者中，8/8 例均有匹配。
HNSCC 中 DMs 的三分之一患者与原发性肿瘤之间不存在遗传关系。对于有肺部受累的患者，分类错误的风险最大。
