Next generation sequencing of cervical high grade dysplasia and invasive squamous cell carcinoma: A case study

Pathol Res Pract. 2020 Apr;216(4):152863. doi: 10.1016/j.prp.2020.152863. Epub 2020 Feb 15.

Abstract

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.

Keywords: Cervical cancer; NGS; RAD51B.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Carcinoma, Squamous Cell / genetics*
  • Class I Phosphatidylinositol 3-Kinases / genetics
  • DNA-Binding Proteins / genetics
  • Female
  • High-Throughput Nucleotide Sequencing
  • Humans
  • Neoplasm Proteins / genetics
  • Oncogene Proteins, Fusion / genetics
  • Uterine Cervical Neoplasms / genetics*

Substances

  • DNA-Binding Proteins
  • Neoplasm Proteins
  • Oncogene Proteins, Fusion
  • RAD51B protein, human
  • Class I Phosphatidylinositol 3-Kinases
  • PIK3CA protein, human