Chan Kimberly, Tseng Christopher, Milarachi Emily, Goldrich David, Schneper Lisa, Sheldon Kathryn, Aliaga Cesar, Alam Samina, Chatterjee Sreejata, El-Bayoumy Karam, Meyers Craig, Goldenberg David, Broach James R
Department of Otolaryngology, Penn State College of Medicine, Hershey, Pennsylvania.
Institute for Personalized Medicine, Penn State College of Medicine, Hershey, Pennsylvania.
Mol Cancer Res. 2025 Feb 6;23(2):119-127. doi: 10.1158/1541-7786.MCR-24-0604.
Approximately 70% of oropharyngeal squamous carcinomas (OPSCC) are associated with human papillomavirus (HPV). Although patients with HPV-positive (HPV+) tumors generally have better outcomes than those with HPV-negative tumors, a subset of HPV+ positive patients do have poor outcomes. Our previous work suggested that tumors with integrated virus exhibit significantly greater genome-wide genomic instability than those with only episomal viral genomes, and patients with HPV+ OPSCC with episomal viral genomes had better outcomes. To explore the causal relation between viral integration and genomic instability, we have examined the time course of viral integration and genetic instability in tonsillar keratinocytes transformed with HPV16. HPV-infected human tonsil keratinocyte cell lines were continuously passaged, and every fifth passage, some cells were retained for genomic analysis. Whole-genome sequencing and optical genomic mapping confirmed that virus integrated in five of six cell lines while remaining episomal in the sixth. In all lines, genome instability occurred during early passages but essentially ceased following viral integration; however, it continued to occur in later passages in the episomal line. To test tumorigenicity of the cell lines, cells were injected subcutaneously into the flanks of nude mice. A cell line with the integrated virus induced tumors following injection in the nude mouse whereas that with the episomal virus did not. Implications: Genomic instability in HPV OPSCC tumors is not the result of viral integration but likely promotes integration. Moreover, transformants with episomal virus seem to be less tumorigenic than those with integrated virus.
大约70%的口咽鳞状细胞癌(OPSCC)与人乳头瘤病毒(HPV)相关。尽管HPV阳性(HPV+)肿瘤患者的预后通常比HPV阴性肿瘤患者更好,但仍有一部分HPV+患者预后较差。我们之前的研究表明,与仅含有游离病毒基因组的肿瘤相比,病毒整合的肿瘤在全基因组范围内表现出明显更大的基因组不稳定性,且具有游离病毒基因组的HPV+ OPSCC患者预后更好。为了探究病毒整合与基因组不稳定性之间的因果关系,我们检测了用HPV16转化的扁桃体角质形成细胞中病毒整合和基因不稳定性的时间进程。对感染HPV的人扁桃体角质形成细胞系进行连续传代培养,每传五代,保留一些细胞用于基因组分析。全基因组测序和光学基因组图谱证实,六个细胞系中有五个细胞系的病毒发生了整合,而第六个细胞系中的病毒仍为游离状态。在所有细胞系中,基因组不稳定性在早期传代过程中出现,但在病毒整合后基本停止;然而,在游离病毒细胞系的后期传代过程中仍继续出现。为了检测细胞系的致瘤性,将细胞皮下注射到裸鼠的侧腹。注射后,含有整合病毒的细胞系在裸鼠中诱导出肿瘤,而含有游离病毒的细胞系则未诱导出肿瘤。启示:HPV OPSCC肿瘤中的基因组不稳定性不是病毒整合的结果,而是可能促进了整合。此外,含有游离病毒的转化体似乎比含有整合病毒的转化体致瘤性更低。