Statistics from Altmetric.com
Ependymoblastoma/embryonal tumour with multilayered rosettes (EPBL-ETMR) represents a distinct entity among primitive neuroectodermal tumours of the central nervous system (CNS).1 ,2 They are genetically characterised by the presence of a focal 19q13.42 amplification associated with upregulation of the oncogenic miRNA cluster C19MC.1 ,2 To date, no mutations in tyrosine kinase receptor genes have been reported in these tumours. We describe a MET T992I mutation in an EPBL-ETMR affecting a 2-year-old female patient.
An MRI examination revealed a large supratentorial tumour with areas of haemorrhages and cystic features. The tumour presented at histological level with the typical EPBL-ETMR features showing highly cellular areas besides a neuropil-like matrix where several multilayered rosettes could be detected (figure 1A). As expected, the tumour was partially MAP2C (Sigma, St Louis, USA), diffuse LIN28A (Cell Signaling Technology, Danvers, USA), and focally S100-protein (Dako, Hamburg, Germany)-positive. The proliferation index, evaluated with an antibody against Ki67-Antigen (MIB-1, Dako), reached a value of 25% of stained tumour cell nuclei. Despite chemotherapy, the patient suffered …