DeCure for Spinal cord ependymoma

In seven patients with sporadic intramedullary spinal cord ependymomas, five harboured detectable mutations in the NF2 gene transcript, all of which truncated the predicted protein product in a region homologous to cytoskeletal proteins. This 1996 study concluded that NF2 transcript mutations occur in the majority of such tumours and likely render the protein inactive. No treatment or survival data were reported.

A 2011 retrospective review of 67 intramedullary spinal ependymomas treated between 1983 and 2006 reported a mean age of 45.6 years and a male-to-female ratio of 2:1. Gross total resection was achieved in 55 patients and subtotal resection in 12; nine patients received adjuvant radiation therapy. Mean follow-up was 32 months. Mean McCormick neurological grade at last follow-up was 2.0. Preoperative outcome correlated significantly with postoperative outcome (P < .001). Outcomes were significantly worse after subtotal resection with or without radiation (P < .05). There were three recurrences. The overall complication rate was 34%, primarily wound infections or cerebrospinal fluid leaks. The authors concluded that aggressive surgical resection carries a high complication rate but that gross total resection yields excellent outcomes and a low recurrence rate.

An earlier 1988 series of 11 patients treated between 1967 and 1983 reported that all had undergone surgery once or twice before radiation. Six were alive and disease-free 78 to more than 180 months after radiation therapy. A 1994 study of 78 patients (median follow-up 14 years for 59 without recurrence, 12 years for 19 who had second operations for relapse) found that length of clinical history, gross appearance of the tumour at first operation, and type of excision were significant predictors of recurrence (P < 0.05, P < 0.05, and P < 0.001 respectively). The authors stated that in the event of recurrence, spinal ependymoma has an adverse prognosis.

A 2018 case-based review noted that ependymomas in adults are rare, occur most commonly in the spinal cord, and are graded WHO I–III. It stated that genetic heterogeneity exists within histological subgroups and that tumours from different CNS locations have different molecular signatures, renewing interest in molecularly targeted therapies given variable outcomes with radiation and poor results with cytotoxic agents. No new trial data were presented. What remains missing are prospective trials that stratify patients by molecular subtype, adequately powered studies comparing surgical strategies with and without adjuvant radiation, and funding for the development of targeted therapies based on the NF2 and other genetic alterations identified in these tumours.