BRCA gene amplification in primary peritoneal high-grade serous carcinoma patient with intrinsic resistance to platinum treatment: a case report

Pathologica. 2023 Apr;115(2):107-110. doi: 10.32074/1591-951X-871.

Abstract

Platinum-based chemotherapy is the standard chemotherapy for high grade serous ovarian cancer and primary peritoneal high-grade serous carcinoma. PARP inhibitors have changed the paradigm of the treatment in platinum-sensitive ovarian cancers and primary peritoneal high-grade serous carcinoma with BRCA1/2 mutation or homologous recombination deficiency (HRD). Platinum-resistant ovarian and primary peritoneal high-grade serous carcinoma have a lower chance to treat and have worse outcomes. We described a case of patient with a platinum resistant primary peritoneal high-grade serous carcinoma with a rare somatic BRCA2 amplification. There are no guidelines for the treatment of ovarian cancer or primary peritoneal high-grade serous carcinoma with BRCA2 amplification. BRCA2 amplification could result in extreme homologous recombination repair (HRR) pathway efficiency and in less platinum sensitivity, which could be a molecular signature for platinum resistance. Free platinum chemotherapy regimens could be more effective in cases with BRCA2 amplification. Further studies are necessary to establish better approaches and strategies for oncological management and treatment in BRCA2 amplification high grade ovarian cancer and primary peritoneal high-grade serous carcinoma.

Keywords: BRCA2 amplification; homologous recombination repair pathway; platinum resistance; primary peritoneal carcinoma.

Publication types

  • Case Reports

MeSH terms

  • BRCA1 Protein / genetics
  • BRCA2 Protein / genetics
  • Carcinoma* / genetics
  • Female
  • Gene Amplification
  • Humans
  • Mutation
  • Ovarian Neoplasms* / drug therapy
  • Ovarian Neoplasms* / genetics
  • Ovarian Neoplasms* / pathology
  • Platinum / therapeutic use

Substances

  • BRCA1 protein, human
  • BRCA1 Protein
  • Platinum
  • BRCA2 protein, human
  • BRCA2 Protein