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

Erica Vormittag-Nocito; John V. Groth; Gayatry Mohapatra

doi:10.1016/j.prp.2020.152863

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

Erica Vormittag-Nocito, John V. Groth, Gayatry Mohapatra^*

^*Corresponding author for this work

Pathology

Research output: Contribution to journal › Article › peer-review

1 Scopus citations

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.

Original language	English (US)
Article number	152863
Journal	Pathology Research and Practice
Volume	216
Issue number	4
DOIs	https://doi.org/10.1016/j.prp.2020.152863
State	Published - Apr 2020

Keywords

Cervical cancer
NGS
RAD51B

ASJC Scopus subject areas

Pathology and Forensic Medicine
Cell Biology

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

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10.1016/j.prp.2020.152863

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

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.",

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AB - 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.

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

Abstract

Keywords

ASJC Scopus subject areas

UN SDGs

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