Neurofibromatosis type 1 is a genetic disorder caused by the NF1 gene that is associated with increased susceptibility to other neoplasms. Here, we report a case of high-grade serous ovarian carcinoma in a patient with neurofibromatosis type 1. A 60-year-old woman visited a previous hospital due to dyspnea. The intensive examination revealed pleural effusions due to ovarian cancer, and she was referred to our institution. She was diagnosed with neurofibromatosis type 1 at the age of 32 years, and her mother and sister had the same diagnosis.
Interval debulking surgery (total abdominal hysterectomy+ bilateral salpingo-oophorectomy+ omentectomy+ peritoneal nodule resection) was performed after neoadjuvant chemotherapy with a decrease in pleural effusions. The pathological diagnosis was high-grade serous ovarian carcinoma. Although she received adjuvant chemotherapy, she experienced several recurrences. She died of ovarian cancer at the age of 64 years. Some studies have reported that the NF1 gene is a tumor suppressor gene and individuals with neurofibromatosis type 1 can develop a wide variety of neoplasms, including serous ovarian carcinoma. It is necessary to accumulate cases which will lead to a better understanding of the molecular mechanisms, including the NF1 gene, involved in the development of high-grade serous ovarian carcinoma in neurofibromatosis type 1, and to the development of effective therapeutic strategies.
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