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Recurrent uterine serous carcinoma with a germline pathogenic BRCA2 variant treated using olaparib: A case report

Kayo Inoue1, Hiroshi Tsubamoto1, Tomoko Ueda1

  • 1Department of Obstetrics and Gynecology, Hyogo College of Medicine, Japan.

Gynecologic Oncology Reports
|April 18, 2020
PubMed

Insights

A germline BRCA2 pathogenic variant was identified in uterine serous carcinoma. This case demonstrates a long-term clinical response to olaparib in a patient with this specific genetic mutation.

Area of Science:

  • Oncology
  • Genetics
  • Pharmacology

Background:

  • Uterine serous carcinoma (USC) is an aggressive gynecologic cancer.
  • Germline pathogenic variants in BRCA2 are associated with various cancers.
  • Genomic sequencing is increasingly used in cancer diagnostics.

Purpose of the Study:

  • To report a case of uterine serous carcinoma with a germline BRCA2 pathogenic variant.
  • To highlight the long-term clinical efficacy of olaparib in such a patient.
  • To contribute to understanding PARP inhibitor response in USC.

Main Methods:

  • Secondary finding of a germline BRCA2 pathogenic variant via genomic sequencing of USC tissue.
  • Clinical observation of patient response to olaparib treatment.
  • Long-term follow-up of clinical outcomes.

Main Results:

  • A germline pathogenic variant in the BRCA2 gene was identified in a patient with uterine serous carcinoma.
  • The patient experienced a sustained clinical response to olaparib therapy.
  • This represents the first reported instance of long-term olaparib response in USC with a germline BRCA2 variant.

Conclusions:

  • Germline BRCA2 pathogenic variants may be relevant targets in uterine serous carcinoma.
  • Olaparib demonstrates potential for long-term efficacy in USC patients with BRCA2 mutations.
  • Further investigation into PARP inhibitors for USC is warranted.
Keywords:
Germline BRCA2 mutationOlaparibUterine serous carcinoma

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