Peer-reviewed article
LINC-29. IMPACT OF RELA FUSION ON OUTCOMES OF CHILDHOOD SUPRATENTORIAL EPENDYMOMAS (ST-EPEN)
Chinnaswamy G, Ramanathan S, Prasad M, Vora T, Sahay A et al. ·
Summary
Written by AI, not yet AICS's view · claude-haiku-4-5-20251001This is a clinical study of brain tumour genetics and outcomes in children with supratentorial ependymomas. It examines the relationship between RELA fusion status and other molecular markers with survival rates in 37 patients treated between 2011-2017. The study finds that high cell proliferation rates correlate with poor survival, while RELA fusion shows a trend toward worse outcomes but without statistical significance.
Key points
- RELA fusion was detected in 35% (13/37) of childhood supratentorial ependymomas
- 5-year event-free survival was 60.1% for the overall cohort
- High Mib-1 index (>20%) significantly correlated with poor survival (5-year EFS 22.2% vs 81.1%, p<0.01)
- RELA-positive tumours showed a trend toward inferior event-free survival but this was not statistically significant (p=0.391)
- L1CAM expression did not correlate with survival outcomes
Limitations
This is a small retrospective cohort study from a single centre with no control group, making it impossible to determine whether observed outcomes reflect the natural history of the disease or the effectiveness of treatment. The authors acknowledge that larger prospective studies are needed to confirm the clinical significance of RELA fusion status.
Abstract
Abstract BACKGROUND Ependymomas are heterogenous group of tumours with variable clinical course and diverse molecular features. RELA fusion status has been reported to have prognostic impact in ST-EPEN. Our retrospective study analysed the prevalence and clinical impact of RELA fusion in childhood ST-EPEN at our centre. STUDY METHODS FFPE tissues of all childhood ST-EPEN diagnosed during 2011–2017 were evaluated for RELA fusion 1/2 by RT-PCR. Children were treated as per guidelines by the Neuro-oncology multidisciplinary team. Outcomes were correlated with RELA fusion, histological features and immunohistochemical parameters(L1CAM expression and Mib-1 index). Only patients with therapy details were included. RESULTS A total of 37 patients(0–50 years) with ST-EPEN were included(median age-10.2 years; boy:girl ratio-1.4:1)for analysis. Histological grade II, II/III and III was seen in 4(11%),2(5%) and 31(84%) patients respectively. Mib-1 index was assessable in 33 patients of which, 9 patients (24%) had a Mib-1 index >20%. RELA fusion was detected in 13(35%)tumors. The 3-year and 5-year EFS/OS of the overall cohort was 64.2%/83.6% and 60.1%/73.1% respectively. The 3-year/5-year EFS of RELA-positive tumors was inferior compared to RELA-negative tumours (53.8%/36% v/s 62.6%/53.6%; p=0.391). The 3-year/5-year EFS of tumors expressing L1CAM versus negative-expression was comparable (61.1%/55%v/s59.8%/47.9%;p=0.44). Presence of Mib-1>20% correlated with inferior survival (5-year EFS:81.1%vs22.2%; p<0.01). CONCLUSIONS ST-EPEN with RELA fusion had trend towards increased relapse/progression. High Mib-1 correlated with poor survival. RELA fusion status needs to be studied in a larger cohort prospectively to confirm its clinical impact.