Human papillomavirus integration perspective in small cell cervical carcinoma

Small cell cervical carcinoma (SCCC) is a rare but aggressive malignancy. Here, we report human papillomavirus features and genomic landscape in SCCC via high-throughput HPV captured sequencing, whole-genome sequencing, whole-transcriptome sequencing, and OncoScan microarrays. HPV18 infections and i...

Descripción completa

Detalles Bibliográficos
Autores principales: Wang, Xiaoli, Jia, Wenlong, Wang, Mengyao, Liu, Jihong, Zhou, Xianrong, Liang, Zhiqing, Zhang, Qinghua, Long, Sixiang, Quzhen, Suolang, Li, Xiangchun, Tian, Qiang, Li, Xiong, Sun, Haiying, Zhao, Caili, Meng, Silu, Ning, Ruoqi, Xi, Ling, Wang, Lin, Zhou, Shasha, Zhang, Jianwei, Wu, Li, Chen, Yile, Liu, Aijun, Ma, Yaqi, Zhao, Xia, Cheng, Xiaodong, Zhang, Qing, Han, Xiaobing, Pan, Huaxiong, Zhang, Yuan, Cao, Lili, Wang, Yiqin, Ling, Shaoping, Cao, Lihua, Xing, Hui, Xu, Chang, Sui, Long, Wang, Shixuan, Zhou, Jianfeng, Kong, Beihua, Xie, Xing, Chen, Gang, Li, Shuaicheng, Ma, Ding, Li, Shuang
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9550834/
https://www.ncbi.nlm.nih.gov/pubmed/36216793
http://dx.doi.org/10.1038/s41467-022-33359-w
Descripción
Sumario:Small cell cervical carcinoma (SCCC) is a rare but aggressive malignancy. Here, we report human papillomavirus features and genomic landscape in SCCC via high-throughput HPV captured sequencing, whole-genome sequencing, whole-transcriptome sequencing, and OncoScan microarrays. HPV18 infections and integrations are commonly detected. Besides MYC family genes (37.9%), we identify SOX (8.4%), NR4A (6.3%), ANKRD (7.4%), and CEA (3.2%) family genes as HPV-integrated hotspots. We construct the genomic local haplotype around HPV-integrated sites, and find tandem duplications and amplified HPV long control regions (LCR). We propose three prominent HPV integration patterns: duplicating oncogenes (MYCN, MYC, and NR4A2), forming fusions (FGFR3–TACC3 and ANKRD12–NDUFV2), and activating genes (MYC) via the cis-regulations of viral LCRs. Moreover, focal CNA amplification peaks harbor canonical cancer genes including the HPV-integrated hotspots within MYC family, SOX2, and others. Our findings may provide potential molecular criteria for the accurate diagnosis and efficacious therapies for this lethal disease.

Ejemplares similares