2023 Volume 23 Issue 1 Pages 27-32
Although the location of BRCA1/2 gene mutations and the pathophysiology that results have been widely reported, there are still many unknowns. Early detection of the lesions and measures taken may contribute to an improved prognosis, especially in the life-threatening state, where treatment options are limited and the prognosis is grim. In this report, we describe two cases of early brain metastasis, including the clinicopathological features.
Case 1 was a 42-year-old woman with bilateral breast cancer who had undergone preoperative chemotherapy. Postoperative BRACAnalysis® showed BRCA1 c. 5558A≠G (p. Tyr1853Cys). One year after surgery, metastases appeared in the brain, lung, and kidney. After whole-brain irradiation, the patient was treated with olaparib, but she became progressive and passed away 1 year and 5 months after breast cancer surgery.
Case 2 was a 40-year-old woman who underwent surgery after preoperative chemotherapy for left breast cancer, and BRACAnalysis® showed BRCA1 c. 5278-1G>A. Brain metastasis appeared 11 months after surgery, and she underwent craniotomy and radiation, but died 1 year and 3 months after breast cancer surgery. Both cases were PD-L1 positive. At present, there are no known factors that predict early brain metastasis, and further search for surveillance is important for early detection of metastasis and appropriate treatment.
