Embryonal tumors with multilayered rosettes in children: the SFCE experience

Area of Science:

• Pediatric Oncology
• Neuro-oncology
• Rare Diseases

Background:

• Embryonal tumors with multilayered rosettes (ETMR) represent a rare and aggressive group of pediatric brain tumors.
• This entity encompasses previously described tumors like ETAN-TR, ependymoblastomas, and medulloepitheliomas.
• Improved diagnostic criteria and therapeutic strategies are crucial for better patient outcomes.

Purpose of the Study:

• To retrospectively analyze a cohort of patients diagnosed with ETMR, ETAN-TR, ependymoblastoma, and medulloepithelioma.
• To enhance the pathological description of these rare embryonal tumors.
• To identify prognostic factors and optimize therapeutic approaches for ETMR.

Main Methods:

• Retrospective collection of patient data from SFCE centers (Société Française de lutte contre les Cancers et les leucémies de l'Enfant et de l'adolescent) since 2000.
• Review of clinical charts for demographic, treatment, and survival data.
• Analysis of LIN28A expression and 19q13.42 amplification in tumor samples.

Main Results:

• Thirty-eight patients were analyzed; 17 ETAN-TR, 13 medulloepitheliomas, and 8 ETMR. No ependymoblastomas were included.
• LIN28A positivity (11/11) and 19q13.42 amplification (10/12) were observed, aiding diagnosis.
• One-year event-free survival (EFS) was 36% and overall survival (OS) was 45%.
• Multivariate analysis identified complete surgical resection, radiotherapy, and high-dose chemotherapy as significant factors for improved OS.

Conclusions:

• ETMR continues to have a dismal prognosis despite current multimodal treatment strategies.
• Systematic LIN28A immunostaining and 19q13.42 amplification are recommended for accurate ETMR diagnosis.
• Complete surgical resection, radiotherapy, and high-dose chemotherapy are associated with better survival outcomes in ETMR patients.