Next Generation Sequencing of Cervical High Grade Dysplasia and Invasive Squamous Cell Carcinoma: a Case Study

Cervical cancer continues to be a prevalent diagnosis among gynecologic pathology despite widespread screening methods and known pathogenesis by human papilloma virus. We describe a patient who underwent next generation sequencing (NGS) of her high grade squamous dysplasia (HG-SIL) as well as the invasive component of her cervical cancer. This tumor showed an amplification of PIK3CA in the invasive carcinoma in addition to a common E542K mutation both in dysplastic and invasive carcinoma. The dysplasia also showed a novel PCNX (e1) - RAD51B (e8) fusion suggesting potentially new mechanisms of pathogenesis in cervical squamous cell carcinoma.