posted on 2022-06-09, 14:54authored byR 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