Metastatic ovarian cancer and gastrointestinal stromal tumor on the grounds of neurofibromatosis. A case report and review of the literature

摘要

Neurofibromatosis type 1 (NF1) is an inherited neurocutaneous syndrome. NF1 patients are at increased risk for both benign and malignant tumors. The authors present the case of a female patient with a medical history of NF1, with an impressive succession of tumors, namely metastatic ovarian cancer and, 20 years later, a gastrointestinal stromal tumor (GIST) of the jejunum. The metastatic ovarian Miillerian adenosarcoma was successfully treated with total abdominal hysterectomy with bilateral salpingo-oophorectomy, radiotherapy, chemotherapy, as well as Gamma Knife radiosurgery of the metastasis in the thalamus. The jejunal GIST was surgically removed. The exploration of molecular pathways that underlie the association between NF1, GISTs, and ovarian cancer may provide valuable insight into the pathogenesis of such cases and assessment of targeted therapies.