A case of malignant rhabdoid tumor in the pineal region in early infancy

A 6-month-old girl was admitted to another hospital because of consciousness disturbance, preceded by 2 weeks of decreased activity and vomiting. She was referred to our hospital after ventricular drainage had been instituted for hydrocephalus and the tumor in the pineal region. The patient was noted to have conjugate upward gaze palsy and papilledema. CT scan and MRI revealed a large tumor in the pineal region with tumoral hemorrhage and a small mass in the right frontal lobe. At surgery, the pineal region tumor was removed subtotally. Histological examination showed the tumor to be composed of sheets of large polyhedral or round cells with an eccentric round nuclei, prominent nucleoli, and cytoplasmic inclusions. Immunohistochemical studies were positive for GFAP, vimentin, S-100, CK, EMA, and SMA, but negative for AFP, HCG, PLAP, and CEA. Following surgery, she received three 5-day cycles of chemotherapy, consisting of intravenous administration of cisplatin 20 mg/m(2)/day and etoposide 60mg/m(2)/day. After these therapies, MRI showed a decrease in the area of high intensity in the pineal region, but almost no change in the right frontal mass lesion. Follow-up radiological examination showed that the tumor had grown rapidly one month after chemotherapy and the patient died 5 months after her first hospitalization. Malignant rhabdoid tumor of the CNS is rare and remarkably malignant. This tumor should be treated using multidisciplinary management with surgery, intensive chemotherapy, and radiotherapy depending on the patient's age.