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Pediatric Embryonal Tumor With Multilayered Rosettes (ETMR): Retrospective Single-Center Case Series of 4 Patients
João Meira Gonçalves1,2, Jorge Pinheiro3, Susana Nunes4
1Department of Neurosurgery, Neurosurgical Pediatric Unit, Unidade Local de Saúde São João.
Background:
Embryonal tumor with multilayered rosettes (ETMR) is a rare, aggressive pediatric tumor whose diagnosis now relies on integrated molecular criteria.
Observations:
Between 2015 and 2025, we treated 4 children (18 mo to 5 y). The first diagnosis was based on morphology and LIN28A immunoreactivity, the second on C19MC amplification, and the last 2 on methylation profiling after weak or absent LIN28A. All received multimodal therapy. One died 18 months after diagnosis; 3 were alive, one beyond 10 years.
Conclusions:
The series documents clinicopathological heterogeneity in ETMR. Molecular profiling contributed to diagnosis in cases with weak or absent LIN28A immunoreactivity.
