Objectives: To estimate the frequency of hereditary breast and ovarian cancer (HBOC) in women with central nervous system (CNS) metastasis from epithelial ovarian cancer (EOC) and to evaluate for a potential relationship between HBOC status and survival.
Methods and materials: A total of 1240 cases of EOC treated between 1995 and 2014 were reviewed to identify CNS metastasis. Demographics, treatment, family history, genetic testing, and survival outcomes were recorded. Women were then classified as HBOC+ or HBOC- based on histories and genetic testing results. Kaplan-Meier survival curves and univariable Cox proportional hazards models were used.
Results: Of 1240 cases, 32 cases of EOC with CNS metastasis were identified (2.58%). Median age was 52.13 (95% confidence interval [CI], 40.56-78.38) years, and 87.10% had stage III to IV disease. Among those with documented personal and family history, 66.7% (20/30) were suspicious for HBOC syndrome. Among those who underwent germline testing, 71.43% (5/7) had a pathogenic BRCA mutation. The median time from diagnosis to CNS metastasis was 29.17 (95% CI, 0-187.91) months. At a median survival of 5.97 (95% CI, 0.20-116.95) months from the time of CNS metastasis and 43.76 (95% CI, 1.54-188.44) months from the time of EOC diagnosis, 29 women died of disease. Univariate Cox proportional hazard models were used to compare HBOC- to HBOC+ women and did not reveal a significant difference for survival outcomes.
Conclusions: Confirmed BRCA mutations and histories concerning for HBOC syndrome are common in women with EOC metastatic to the CNS. We did not demonstrate a relationship between HBOC status and survival outcomes, but were not powered to do so.