Introduction: Embryonal tumor with multilayered rosettes (ETMR) is a rare and aggressive subtype
of embryonal tumors primarily affecting children. Based on the 2021 World Health Organization
(WHO), ETMRs have been reclassified and characterized by specific molecular markers
such as chromosome 19 amplification (C19mc) and Lin28A immunohistochemistry. ETMRs
pose significant clinical challenges due to limited understanding and treatment options,
resulting in poor prognoses.
Objective: This case report and systematic review aim to synthesize current knowledge and treatment
outcomes of ETMR utilizing the updated WHO classification, to enhance clinical management
and identify potential areas for future research.
Materials and Methods: A comprehensive systematic review following PRISMA guidelines was conducted, with
a search of bibliographic databases (PubMed, Embase, and Web of Science) up to August
2023. This included case reports, case series, and retrospective/prospective studies.
The case presentation was developed with patient consent, focusing on clinical presentation,
management, and outcomes.
Results: A 9-year-old female presented with a week of headaches, nausea, vomiting, and seizures.
Imaging, pathological analysis, and molecular testing confirmed the diagnosis of ETMR.
Treatment consisted of surgical resection, chemotherapy, and radiation. The patient
is alive and in remission at 20 months. In 132 studies, 341 patients were included,
with a mean age of 4.34. C19mc amplification was only reported in 27% of patients,
with additional markers such as LIN28A (20.8%) and DICER1 (1.5%) also reported. The
most common tumor locations were the frontal lobe (n = 35), parietal lobe (n = 27), 4th ventricle (n = 19), cerebellum (n = 17), and cerebellopontine angle (n = 11), with 62% of tumors found supratentorial and 35% found infratentorial. Treatment
approaches varied, with 68% of patients receiving chemotherapy and 49% undergoing
radiation therapy. The degree of surgical resection significantly impacted survival,
with gross total resection (GTR) showing the best overall survival outcome. The median
overall survival was 11.9 months, with those who received GTR, chemotherapy, and radiation
having the longest mean survival of 38 months.
Conclusion: Our review underscores the critical need for a multidisciplinary approach to managing
ETMR and highlights the importance of molecular profiling in guiding treatment. The
association between comprehensive treatment, including GTR, and improved survival
outcomes stresses the need for collaborative networks and multicenter studies to develop
targeted therapies and refine management strategies.
