Advancements in HPV Detection and Characterization: The Promise of NGS and Bioinformatics

Human papillomavirus (HPV) can cause cervical cancer, leading to death in women. HPV testing can potentially identify infections associated with cervical cancer at an earlier stage. Next-generation sequencing (NGS) technology offers a promising approach for the comprehensive characterization of HPV genotypes. Bioinformatics analysis has played a pivotal role in identifying prognostic markers and refining prognostic models. The identification of potential biomarkers through bioinformatics analysis holds promise for the development of novel diagnostic tools and targeted therapeutic interventions tailored to the specific molecular characteristics of cervical cancer. The integration of HPV genomes into the host genome has been identified as a critical event in the progression towards neoplastic transformation. This integration often leads to the partial or complete deletion of essential genes such as E۱ and E۲, resulting in the overexpression of oncogenes E۶ and E۷. These molecular alterations contribute significantly to the disruption of normal cellular processes, facilitating the development and progression of precancerous lesions and ultimately, carcinoma. Recent research employing advanced NGS techniques has revealed that the degree of HPV integration varies according to the severity of cytological cervical grades. Studies utilizing double-capture systems followed by high-throughput sequencing have demonstrated varying rates of HPV integration across different stages of neoplastic development, ranging from low-grade squamous intraepithelial lesions (LSIL) to high-grade lesions (HSIL) and invasive carcinomas. Furthermore, these cutting-edge methodologies have enabled researchers to identify specific integration sites within the human genome. Such findings have shed light on potential early-stage biological and clinical prognostic biomarkers for predicting the progression of neoplastic lesions. The integration status of HPV appears to be associated with large deletions at genomic insertion points, suggesting complex interactions between viral and host genetic material during the carcinogenic process. Long-term use of oral contraceptives and cigarette smoking are also significant risk factors for high-grade cervical disease. In summary, advancements in HPV detection and characterization offer promising approaches for the early detection and comprehensive characterization of HPV genotypes. In conclusion, the integration of NGS technology and bioinformatics analysis has significantly expanded our understanding of HPV virome composition and its role in cervical carcinogenesis. These advancements have not only improved diagnostic capabilities but also provided valuable insights into the molecular mechanisms underlying HPV-induced neoplasia, potentially leading to the development of novel therapeutic strategies targeting specific aspects of HPV integration and expression.

کلیدواژه ها:

Human papillomavirus ، Cervical cancer ، NGS ، Prognostic markers ، Bioinformatics