Rare Embryonal Tumors of the Central Nervous System: International Registry

CNS tumors are the most common solid malignancies among children. Although some types of CNS tumors like medulloblastomas and low-grade gliomas are widespread and well-studied, there is a huge number of rare diseases that need further research. This international registry aims to establish a large multicenter database of pediatric and young adult patients with rare embryonal tumors of the central nervous system and describe the clinical presentations, diagnostics, treatment regimens, and outcomes. Embryonal tumors with multilayered rosettes (ETMR), FOXR2-activated CNS neuroblastoma, cribriform neuroepithelial tumor, and CNS tumor with BCOR internal tandem duplication are extremely rare embryonal tumors some of which were first described in the last edition of the WHO Classification of Tumors of the Central Nervous System. Our objectives are 1) to evaluate prognostic factors, 2) to identify diagnostic and treatment gaps, 3) to investigate the characteristics and outcome of the disease with different treatment regimens, and 4) to generate data-based prospective diagnostic and treatment recommendations.

Inclusion Criteria:Patients diagnosed with rare embryonal tumors of CNS (ETMR, FOXR2-activated CNS neuroblastoma, cribriform neuroepithelial tumor, CNS tumor with BCOR internal tandem duplication) since 01.01.2010. ETMR has been included in the WHO classification of CNS tumors since 2016 and encompasses three morphologically distinct embryonal tumors (Embryonal tumor with abundant neuropil and true rosettes (ETANTR), ependymoblastoma (EBL) and medulloepithelioma (MEPL)) that were previously classified as CNS-PNETs. These histological subtypes also should be included in the study. Considering the lack of molecular genetic tests in retrospective cases we will also include all patients diagnosed with neuroblastoma and ganglioneuroblastoma.Patients ≤ 25 years of ageSigned informed consent form for prospective patients ≥ 18 years of ageSigned parental permission and child assent forms for prospective patients < 18 years of ageExclusion Criteria:CNS metastases of extracranial embryonal tumors