Investigating a clinically actionable BRAF mutation for monitoring low-grade serous ovarian cancer.pdf (1.49 MB)
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Investigating a clinically actionable BRAF mutation for monitoring low-grade serous ovarian cancer: a case report

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journal contribution
posted on 09.06.2022, 14:54 by R Silva, B Moran, Sudipto DasSudipto Das, N Mulligan, M Doughty, A Treacy, K Sheahan, CM Kelly, AG Duffy, AS Perry, DJ Brennan
Low-grade serous ovarian cancer (LGSOC) poses a specific clinical challenge due to advanced presentation at diagnosis and the lack of effective systemic treatments. The aim of this study was to use a precision medicine approach to identify clinically actionable mutations in a patient with recurrent LGSOC. Primary, metastatic and recurrence tissue, and blood samples were collected from a stage IV LGSOC patient. Single-gene testing for clinically actionable mutations (BRAF V600, KRAS and NRAS) and subsequent whole-exome sequencing (WES) were performed. Droplet digital PCR was used to evaluate the presence of an identified BRAF D594G mutation in the matched plasma cell-free DNA (cfDNA). No clinically actionable mutations were identified using single-gene testing. WES identified a BRAF D594G mutation in six of seven tumor samples. The patient was commenced on a MEK inhibitor, trametinib, but with minimal clinical response. A newly designed ddPCR assay detected the BRAF alteration in the matched tissues and liquid biopsy cfDNA. The identification and sensitive plasma detection of a common “druggable” target emphasises the impact of precision medicine on the management of rare tumors and its potential contribution to novel monitoring regimens in this field.

Funding

Ireland East Hospital Group

National Maternity Hospital Foundation

Science Foundation Ireland Strategic Partnership Programme Precision Oncology Ireland [18/SPP/3522]

Irish Cancer Society [CRS17SIL]

Irish Association of Cancer Research [AOIFA award 2019]

History

Comments

The original article is available at https://www.sciencedirect.com/

Published Citation

Silva R. et al. Investigating a clinically actionable BRAF mutation for monitoring low-grade serous ovarian cancer: a case report. Case Rep Womens Health. 2022;34:e00395

Publication Date

6 February 2022

PubMed ID

35198414

Department/Unit

  • School of Pharmacy and Biomolecular Sciences

Research Area

  • Cancer
  • Immunity, Infection and Inflammation

Publisher

Elsevier BV

Version

  • Published Version (Version of Record)