Mucinous borderline ovarian tumors with BRAFV600E mutation may have low risk for progression to invasive carcinomas

Arch Gynecol Obstet. 2020 Aug;302(2):487-495. doi: 10.1007/s00404-020-05638-8. Epub 2020 Jun 16.

Abstract

Purpose: Mucinous ovarian carcinomas (MOCs) are relatively rare. It has been proposed that a subset of mucinous cystadenomas (MCAs) may progress to mucinous borderline tumors (MBTs), and then to MOCs. KRAS is the predominantly mutated gene in MOC; however, other associated mutations and the mechanism underlying carcinogenesis in MOC remain unclear. Here, we assessed molecular genetic alterations in mucinous ovarian tumors and constructed mutation profiles.

Methods: Using the Sanger sequencing method, we assessed genetic mutations (KRAS, BRAF, TP53, and PIK3CA) in 16 cases of MOC, 10 cases of MBT, and 12 cases of MCA.

Results: Among MOC cases, the prevalence of G12D and G13D KRAS mutations was 43.8% (7/16). No MOC cases showed V600E BRAF and TP53 mutations. Among MBT cases, the prevalence of G12D KRAS mutation was 20.0% (2/10), those of TP53 and PIK3CA mutations were nil, and that of V600E BRAF mutation was 40% (4/10). None of the genetic mutations assessed were detected among MCA cases.

Conclusion: These results suggest that MBT with V600E BRAF mutation may rarely progress to MOC, while MBT with G12D or G13D KRAS mutation may more commonly progress to MOC.

Keywords: BRAF; KRAS; Mucinous ovarian tumor; TP53.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adenocarcinoma, Mucinous / genetics*
  • Adenocarcinoma, Mucinous / pathology
  • Adolescent
  • Adult
  • Aged
  • Aged, 80 and over
  • Disease Progression
  • Female
  • Humans
  • Middle Aged
  • Mutation
  • Ovarian Neoplasms / genetics*
  • Ovarian Neoplasms / pathology
  • Proto-Oncogene Proteins B-raf / genetics*
  • Young Adult

Substances

  • BRAF protein, human
  • Proto-Oncogene Proteins B-raf