What Should a Gynecologist Know about Li-Fraumeni Syndrome? Lessons from a Patient Undergoing Hysterectomy for Benign Indications

Gynecol Obstet Invest. 2018;83(4):410-414. doi: 10.1159/000489261. Epub 2018 Jun 26.

Abstract

Li-Fraumeni syndrome (LFS) is a rare highly penetrant cancer syndrome characterized by mutation in the TP53 tumor suppressor gene. Recent data suggest that this germline mutation is more frequent than once thought. While LFS has not been associated previously with pelvic serous carcinoma, gynecologic malignancies have been reported in this patient population. We present the case report of a 37-year-old patient with known LFS and a history of multiple cancers who underwent total abdominal hysterectomy for benign indications with incidental bilateral salpingo-oophorectomy. On final pathology, she was found to have serous tubal intraepithelial carcinoma of bilateral fallopian tubes. Our findings raise the question of the potential role of prophylactic gynecologic cancer-reducing surgery in this patient population.

Keywords: Cancer syndromes; Fallopian tube cancer; Gynecologic oncology; Li-Fraumeni; Risk-reducing surgery.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Fallopian Tube Neoplasms / genetics
  • Fallopian Tube Neoplasms / surgery*
  • Female
  • Genetic Predisposition to Disease
  • Germ-Line Mutation
  • Humans
  • Hysterectomy / methods*
  • Li-Fraumeni Syndrome / complications
  • Li-Fraumeni Syndrome / genetics
  • Li-Fraumeni Syndrome / surgery*
  • Neoplasms, Cystic, Mucinous, and Serous / genetics
  • Neoplasms, Cystic, Mucinous, and Serous / surgery*
  • Tumor Suppressor Protein p53 / genetics*

Substances

  • Tumor Suppressor Protein p53