ETMR-13. Embryonal Tumor with Multilayered Rosettes in an Infant: Case Report

Abstract

Embryonal tumor with multilayered rosettes (ETMR) is a highly malignant tumor (WHO grade 4) seen predominantly in infants. It includes morphologically distinct embryonal tumors namely, embryonal tumor with abundant neuropil and true rosettes, ependymoblastoma, and medulloepithelioma. The presence of multilayered rosettes and C19MC amplification at chromosome 19q13.42 confirms the diagnosis. The median overall survival is less than a year and the prognosis is generally poor. We report the case of a 1-year-old girl who presented with vomiting, lethargy, and increasing head circumference over a period of six months. On admission, she was drowsy and irritable. Verbal output was limited to moans and motor response was localizing. She was macrocephalic with a head circumference of 51 cm. MRI showed a large 5 x 5 x 6.5cm contrast-enhancing cerebellar vermian tumor with obstructive hydrocephalus. There was no evidence of leptomeningeal disease or spinal metastasis at this time. She underwent a right frontal ventriculoperitoneal shunt insertion, followed by suboccipital craniotomy and subtotal tumor resection one week later. Her shunt was ligated two days after tumor excision, due to development of bilateral subdural hygromas. The patient regained full consciousness, but still had spastic lower extremities and inability to swallow at the time of discharge. Histopathology and immunostains were consistent with an embryonal tumor, possibly ETMR, and the patient was for advised chemotherapy. Before initation of chemotherapy, the patient was admitted in another instution because of alteration in sensorium. Repeat imaging showed progression of the patient’s subdural hygromas, requiring insertion of a subduroperitoneal shunt. The patient died seven weeks after tumor resection due to progression of her tumor residual. Management options for ETMR are limited, especially in low- and middle-income countries. International linkages may help facilitate the accurate diagnosis and early treatment of these patients with rare but aggressive brain tumors.