Embryonal tumor with multilayered rosettes (ETMR)

Case contributed by Dr Jeremy Jones

Presentation

First seizure with sunsetting. Increasing head circumference and delayed motor milestones.

Patient Data

Age: 16 months
Gender: Female

The obvious intracranial mass lesion is a mixed solid and cystic lesion that is centered around the midline in the anterior cranial fossa. The more solid elements enhance and demonstrate diffusion restriction.

Features here are of a high-grade, aggressive tumor which is highly vascular. The differential includes supratentorial PNET and supratentorial ependymoma. The MRS is not particularly helpful.

Case Discussion

A biopsy of the central solid components was undertaken and revealed that the tumor was a supratentorial PNET. The biopsy of the lesion resulted in significant hemorrhage and 4 units of blood along with clotting factors were required.

Chemotherapy did not significantly alter the volume of MRI characteristics of the lesion and it continued to grow.

Note: The current (2016) WHO classification of CNS tumors has made substantial changes to tumors previously considered to be supratentorial PNET, now classified as embryonal tumors with multilayered rosettes (ETMR), along with a number of other entities, in recognition of characteristic amplification of the C19MC region on chromosome 19 (19q13.42).

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Case information

rID: 32198
Published: 18th Nov 2014
Last edited: 14th Aug 2019
System: Paediatrics
Inclusion in quiz mode: Included

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