Pediatric extraspinal sacrococcygeal ependymoma (ESE): an Italian AIEOP experience of six cases and literature review

Background Primary pediatric extraspinal sacrococcygeal ependymoma (ESE) is a very rare disease, poorly described in literature, whose diagnostic, therapeutic, and follow-up approach is still controversial. Methods We describe six cases of pediatric ESE treated at Associazione Italiana Ematologia Oncologia Pediatrica (AIEOP) centers in Italy since 1983, with a review of the literature. Results All six patients had primary sacrococcygeal disease (two presacral and four subcutaneous) with median age of 10 years. Three patients were males, and two of them are metastatic at diagnosis; 3/6 had myxopapillary ependymoma grade I and 3/6 had classic ependymoma grade II. Five patients underwent surgical resection with complete removal only in one case with coccygectomy. Adjuvant chemoradiotherapy was administered to one metastatic patient obtaining a complete remission. Two patients relapsed at 3 and 8 years from diagnosis: they were treated with salvage chemotherapy (high-dose sequential chemotherapy with myeloablative regimen in one case), surgery, and radiotherapy achieving complete remission (CR). All six patients are in complete continuous remission (CCR) at a median follow-up of 12.8 years. Conclusions Pediatric patients with this peculiar disease need to be referred to specialized pediatric cancer centers that can provide multidisciplinary treatment after a centralized pathology review. Our experience highlights the role of chemotherapy and radiotherapy in adjuvant and relapse setting. The final prognosis is relatively optimistic, but with a careful follow-up due to the high risk of recurrence.