Solitary Brain Metastasis in a Patient With Ovarian Cancer With BRCA2 Mutation

Abstract

A 57-year-old white woman presented to an outside hospital with shortness of breath. She was noted to have bilateral pleural effusions and an intra-abdominal cystic mass on a computed tomography (CT) scan. Diagnostic thoracentesis was performed at that time. The cytology showed adenocarcinoma cells, which were consistent with metastatic spread from ovarian primary. Debulking surgery was performed at the outside hospital that consisted of a total abdominal hysterectomy with bilateral salpingooophoerectomy, appendectomy, cholecystectomy, and partial colectomy of the transverse colon. Pathology was consistent with grade 2 to 3 papillary cystadenocarcinoma.Repeat CT 1 month after surgery revealed small bilateral pleural effusions and bilateral axillary lymphadenopathy. The initial postsurgical, prechemotherapy cancer antigen (CA) -125 of the patient was 1,160 U/mL (normal value, Ͻ 35 U/mL). The patient was started on carboplatin and paclitaxel doublet chemotherapy 1 month after surgery at our facility. Her CA-125 after completion of chemotherapy had decreased to 18 U/mL. One year later, the CA-125 level of the patient increased to 40.3 U/mL, and a restaging CT scan revealed no evidence of local tumor recurrence but did indicate a superior mediastinal lymph node, which had increased in size since the previous year. A positron emission tomography scan was performed that did not confirm disease recurrence. The patient was observed for the next 3 years.The family history of the patient was significant for breast cancer in two sisters and in two nieces from the same sisters, all of whom were positive for BRCA2 mutation. A third sister had a history of lung cancer and colon cancer. The mother of the patient had a history of breast cancer and lung cancer, and both the father and brother of the patient had melanoma. The patient was positive for deleterious mutation BRCA2-(4075delGT) and BRCA2 polymorphism (L996R).The patient presented for follow-up in May 2011 with complaints of a 1-month history of mild headaches and jerking movements in her right arm as well as occasional dizziness and decreased visual acuity. Magnetic resonance imaging of her brain revealed a solitary mass in the left central parietal region (Fig 1). She was admitted to the hospital and started on intravenous steroids and underwent craniotomy with removal of the tumor. The pathology of the specimen revealed a metastatic poorly differentiated adenocarcinoma, with patchy positive immunohistochemical staining for progestrone receptor and estrogen receptor, which was compatible with metastasis from ovarian primary (Fig 2). Repeat CT imaging of her chest, abdomen, and pelvis did not reveal recurrence of disease in any other locations. Her CA-125 had remained relatively stable over the past 3 years and was 38.1 U/mL at the time of brain surgery. The patient was discharged with mild improvement of her symptoms and scheduled for wholebrain radiation therapy as well as platinum-based chemotherapy.The patient completed 10 fractions of whole-brain radiation therapy....

Presence of brain metastases in patients with ovarian cancer: a place for BRCA1/2 gene testing?

“…Furthermore, Sekine et al 16 , investigating the incidence of brain metastases in BRCA1related ovarian cancers, reported that four of seven cases with brain metastases secondary to ovarian cancer were BRCA1-related. Finally, Root and Armaghany 19 reported a case of a BRCA2-positive ovarian cancer patient who developed a solitary brain metastasis 3 years after being diagnosed with papillary cystadenocarcinoma (Table 1).…”

Stereotactic radiosurgery for brain metastasis from gynecological malignancies

“…Ovarian cancer often spreads loco-regionally in the abdomen and distant metastasis are infrequently observed (4). Amongst these abdominal diseases, brain metastases from malignancies of the female genital tract have rarely been reported, with an incidence of only 0.4–1.2% in metastatic cervical cancer patients (5–7), 0.3–0.9% in the majority of metastatic endometrial cancer cases (4,8) and <2% in metastatic ovarian cancer cases (9,10). Despite decades of studies on the management of brain metastases from lung, renal and gastrointestinal cancer, melanoma and other cancers, there is hardly any available literature on brain metastases from gynecological malignancies.…”