Search

Aim of this study was to search for novel chromosomal imbalances and potential prognostic markers in pediatric ependymoma. Tumor DNA, obtained from 20 children with intracranial ependymoma (World Health Organization WHO grades II and III), was analyzed using metaphase-based comparative genomic hybridization (CGH) and fluorescent in situ hybridization (FISH). The novel copy number aberrations (CNAs) here identified are (i) 4q33-qter loss, (ii) 10q25.2-q26.3 gain, (iii) 3q23-qter losses, (iv) 18q22.2 loss, and (v) 19p13.1-p13.3 gain. The combined presence of 6p22-pter and 13q14.3-qter losses predicted significantly reduced survival. Larger studies are warranted to validate these findings.

The involvement by tumour of intervertebral foramina and the consequent invasion of the spinal space, accompanied or not by neurological symptoms, represent a well-recognised pattern of presentation of neuroblastoma. The main peculiarity of this condition stands in the fact that, in case of its late detection or inadequate treatment, severe, permanent neurological compromise may ensue. Surprisingly enough, remarkable disagreements still exist regarding its optimal treatment and the related literature provide contrasting indications at this respect. The neurosurgical and the chemotherapeutic approaches have equally convinced supporters, while the use of radiation therapy is uncommon, possibly without good reasons. This mini-review intends to report the clinical experiences of the major Paediatric Oncology Groups with the aim to collect as many data as possible in the perspective of establishing common guidelines for proper diagnosing and treatment of this important complication.