Rare Oncogenic Fusions in Pediatric Central Nervous System Tumors: A Case Series and Literature Review.

Central Nervous System (CNS) pediatric tumors represent the most common solid tumors in children with a wide variability in terms of survival and therapeutic response. By contrast to their adult counterpart, the mutational landscape of pediatric CNS tumors is characterized by oncogenic fusions rather than multiple mutated genes. CNS pediatric tumors associated with oncogenic fusions represent a complex landscape of tumors with wide radiological, morphological and clinical heterogeneity.

Total Cranial Vault Remodelling Versus Minimally Invasive Suturectomy With Postoperative Helmet Therapy in Sagittal Craniosynostosis.

Different surgical techniques have been explored over time to treat children with scaphocephaly. The objective of this study is to compare morbidity and cosmetic outcomes in total cranial vault remodelling (TCVR) and minimally invasive suturectomy with postoperative helmet therapy (MISPH) in patients with scaphocephaly. The authors performed a retrospective comparative cohort study, including 43 patients with isolated sagittal craniosynostosis who underwent TCVR (n=17) or MISPH (n=26) at the Antwerp University Hospital between April 2008 and December 2022.

A rare trifocal presentation of a choroid plexus papilloma: Case report and review of the literature.

Introduction: CPP's present as slow-growing intraventricular neoplasms arising from epithelium of choroid plexus. They account for approximately 0.5-4% of intracranial neoplasms in adults and children, respectively.

Homozygous variants in two unrelated patients with craniosynostosis and radioulnar synostosis.

Background: encodes an intracellular inhibitor of the bone morphogenetic protein (BMP) signalling pathway. Until now, rare heterozygous loss-of-function variants in were demonstrated to increase the risk of disparate clinical disorders including cardiovascular disease, craniosynostosis and radioulnar synostosis. Only two unrelated patients harbouring biallelic variants presenting a complex cardiovascular phenotype and facial dysmorphism have been described.