Lona Jawaheer*, Vikas Chadha and Paul Cauchi
Tennent Institute of Ophthalmology, Gartnavel General Hospital, UKFulltext PDF
Uveal metastases from breast, lung or gastrointestinal malignancies represent the most frequent intraocular malignancy. We present a case of a 52-year old female patient with metastatic breast cancer with lung and liver involvement, known to be a BRCA2 mutation carrier. Following a presentation to the emergency service with pain and blurred vision in her left eye, she was diagnosed with uveal metastases. Ten days following this new diagnosis, she was enrolled onto a clinical trial of olaparib, a PARP-inhibitor (Phase 1 Food Effect Study D081ACC00001, NCT01851265). She subsequently developed an improvement in her vision (Snellen visual acuity increased from 1/60 to 6/18 over 6 weeks) and the ocular tumour with its associated retinal detachment was noted to have regressed considerably. PARP inhibitors are currently involved in several clinical trials for ovarian/breast cancers associated with BRCA mutations. They work by preferentially targeting DNA repair defects in BRCA-positive mutated cancer cells. In this case olaparib caused regression of ocular metastases in a patient with a BRCA mutation and advanced breast cancer. It supports the case for further research towards offering targeted treatment through gene expression analyses and biomarker functional assays.
Jawaheer L, Chadha V, Cauchi P. Regression of Uveal Metastases Following Treatment with PARPInhibitor in a Patient with Germline BRCA Mutation and Advanced Breast Cancer. Ann Clin Case Rep. 2019; 4: 1596.