Embryonal tumor with multilayered rosettes, C19MC-altered (ETMR): a newly defined pediatric brain tumor

Embryonal tumor with multilayered rosettes (ETMR), C19MC-altered, is a newly defined and rare pediatric malignant tumor of the central nervous system (CNS) in the 2016 WHO Classification of Tumors of the Central Nervous System. Here we present two cases of ETMR with amplification of the C19MC locus at chromosome 19q13.42. Case 1 is a fifteen-year-old boy, who underwent gamma knife surgery two times three years ago, after presenting with seizures. Magnetic resonance imaging (MRI) identified a large mass in the left frontotemporal lobe. Case 2 is a three-year-old boy who underwent surgery for a right frontal lobe tumor followed by chemotherapy. Eight months later, MRI identified a recurrent tumor in the bilateral frontal lobe. Histologically, cases 1 and 2 exhibited a typical papillary/trabecular and a multilayered rosette pattern resembling medulloepithelioma (ME) and ependymoblastoma (EBL), respectively. Immunohistochemically, CD99, synaptophysin, vimentin, and LIN28A were positive in both cases. Most importantly, both cases displayed amplification in the C19MC locus at 19q13.42 in a fluorescence in situ hybridization (FISH) analysis.