Neurofibromatosis type 2 diagnosed at time of cervical squamous cell carcinoma

Introduction

Cervical cancer is most frequently diagnosed in women between ages 35–44 and rarely develops in younger women. Over 90% of cervical cancers are associated with human papillomavirus (HPV) persistence, but some are associated with genetic mutations such as STK11. This case discusses development of squamous cell carcinoma in a 25-year-old patient following low-grade squamous intraepithelial lesion (LSIL), cannot exclude high grade cytology result four years prior. Case Report: A 25-year-old G2P2 presented for a postpartum exam, which was notable for a 1 cm lesion of the anterior cervix. Biopsies confirmed squamous cell carcinoma. A positron emission tomography/computed tomography (PET/CT) was completed for surgical planning which noted bilateral brain masses, concerning for vestibular schwannomas, which met clinical criteria for neurofibromatosis type 2 (NF2). Following referral to neurosurgery, a left retrosigmoid craniotomy was completed. A modified radical abdominal hysterectomy and sentinel lymph node dissection was performed following recovery from neurosurgery. Somatic genetic testing returned with a frameshift mutation in NF2E1194FJ. Final hysterectomy pathology noted a grade 3 tumor measuring 1.2 cm in size and with 3.75 mm depth of invasion.