Glioblastoma in a Patient with Lynch Syndrome : A Case Report

Abstract

  Glioblastoma in Lynch syndrome is rare, and reports on the treatment experience in such a clinical setting is limited. Here, we report a Lynch syndrome patient with a glioblastoma. A 49-year-old woman presenting with a headache and gait disturbance was found to have an intracranial mass and was referred to our institution. She had a history of ovarian cancer, and her mother had been diagnosed with Lynch syndrome with genetic examination. Computed tomography (CT) and magnetic resonance imaging (MRI) demonstrated a ring-enhancing lesion with perifocal edema in the right temporal lobe, and gross total resection of the lesion confirmed the diagnosis of glioblastoma. The adjuvant treatment consisted of 60Gy irradiation and concomitant temozolomide. Genetic testing confirmed the identical germline mutation of MSH2 (c.1216C＞T). A screening of the colon detected an early-stage colorectal cancer, which was endoscopically resected. After 16 cycles of temozolomide, MRI detected a growing lesion ; however, resection of the lesion revealed no malignant tumor cells. A cancer genome panel examination was performed using the initial lesion at that point, which confirmed an microsatellite instability-high status. Pembrolizumab was administered, and the lesion remained stable 36 months after the initial surgery.