Embryonal tumor with multilayered rosettes; rare pediatric CNS tumor. A case report and review of literature

Abstract

Embryonal tumor with multilayered rosettes (ETMR), C19MC-altered is a newly designated entity of the embryonal tumors of the central nervous system (CNS) according to the 2016 WHO classification system of CNS. Characteristically, these tumors are newly defined based on their specific molecular genetic amplification in chromosome 19q13.42 found at locus C19MC. To the best of our knowledge, we present the first reported case of ETMR in Saudi Arabian pediatric population. A 2-year-old boy presented to the hospital with generalized tonic-colonic seizure, vomiting, irritability, and inability to walk. Computed tomography (CT) scan showed a large left thalamic supratentorial brain tumor. The tumor measured 6.1 × 5.6 × 5.6 cm and was characterized by cystic changes, prominent vasculature, and calcifications. Histopathology, immunohistochemistry examination, and fluorescence in situ hybridization (FISH) analysis confirmed the diagnosis of ETMR. In addition to reporting this rare case, we provide a brief literature review, treatment options, patient outcome, and disease prognosis.