Rare Embryonal Tumors of the Central Nervous System: International Registry
For patients and families
In plain language
An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.
- What is being studied
- This is an observational study: the protocol does not assign a study treatment.
- Who it may be relevant to
- Registry conditions: Embryonal Tumor. Basic parameters: 1 Day — 25 years · All.
- What needs checking
- Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
- Where it takes place
- Armenia, Canada, Hungary, India, Iran +4
- Next step
- Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →
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Overview
Central nervous system (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 World Health Organization (WHO) Classification of Tumors of the Central Nervous System. Objectives of the registry 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.
Detailed description
CNS tumors are the most common solid malignancies and the leading cause of children's cancer-related mortality. Embryonal tumors account for approximately 20-25% of all primary CNS tumors in children. Although medulloblastomas are the most commonly diagnosed malignant brain tumors, other embryonal tumors are relatively rare. Several studies of rare embryonal tumors have been published, but the number of included patients is generally small. Diagnosis of different subtypes of rare embryonal tumors can be extremely challenging. Because of limited data, there are no standard treatment recommendations for patients with rare embryonal tumors.
Embryonal tumors with multilayered rosettes (ETMR), FOXR2-activated CNS neuroblastoma, cribriform neuroepithelial tumor, CNS tumor with BCOR internal tandem duplication, and embryonal tumors not otherwise specified/not elsewhere classified (NOS/NEC) are extremely rare. Moreover, FOXR2-activated CNS neuroblastoma, cribriform neuroepithelial tumor, and CNS tumor with BCOR internal tandem duplication were first described in the fifth edition of the WHO Classification of Tumors of the Central Nervous System, published in 2021. Because of the rarity of these tumors, randomized controlled clinical trials are extremely complicated to conduct. Considering the lack of studies from low- and middle-income countries (LMICs) it is not excluded that cases of rare embryonal tumors are more common than have been described in the literature. Hence, evidence can be generated through registry studies.
This is a multicenter international retrospective and prospective registry to collect and analyze data from pediatric and young adult patients diagnosed with rare CNS embryonal tumors. Patients will be recruited directly by participating centers and national study groups. Participating centers will collect and verify the informed consent of all prospective patients enrolled at their centers.
Patients diagnosed with rare embryonal tumors of the CNS (ETMR, FOXR2-activated CNS neuroblastoma, cribriform neuroepithelial tumor, CNS tumor with BCOR internal tandem duplication, embryonal tumors NOS/NEC) since 01.01.2010 will be included. 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 primitive neuroectodermal tumors (CNS-PNETs). These histological subtypes should also be included in the study. Considering the lack of molecular genetic tests done among retrospective cases, the investigators will also include all patients diagnosed with neuroblastoma and ganglioneuroblastoma.
The following data will be collected through questionnaires:
1. Patient characteristics 2. Characteristics of rare CNS embryonal tumors 3. Details of the diagnosis and treatment 4. Complications and late effects of treatment 5. Outcomes 6. Follow-up information
Quality control and data management will be conducted by the Immune Oncology Research Institute.
Primary outcome measures
- 3-year overall survival [Time frame: 3 years]
- 5-year overall survival [Time frame: 5 years]
Secondary outcome measures (3)
- Complete remission rate [Time frame: 5 years]
- 3-year event-free survival [Time frame: 3 years]
- 5-year event-free survival [Time frame: 5 years]
Eligibility criteria
Inclusion criteria
- Patients diagnosed with rare embryonal tumors of CNS since 01.01.2010:
- ETMR (including embryonal tumor with abundant neuropil and true rosettes (ETANTR), ependymoblastoma (EBL) and medulloepithelioma (MEPL) which were previously classified as CNS-PNETs)
- FOXR2-activated CNS neuroblastoma
- cribriform neuroepithelial tumor
- CNS tumor with BCOR internal tandem duplication
- all patients diagnosed with neuroblastoma and ganglioneuroblastoma with no molecular genetic tests available
- Patients ≤ 25 years of age
- Signed informed consent form for prospective patients ≥ 18 years of age
- Signed parental permission and child assent forms for prospective patients < 18 years of age
Exclusion criteria
- CNS metastases of extracranial embryonal tumors
Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.
Healthy volunteers: No
Study design
- Observational model
- Case-only
Study locations
Mexico · 2 centers
- Hospital Civil de Guadalajara "Dr. Juan I. Menchaca" — Guadalajara
- Centro Médico ABC — Mexico City
Peru · 2 centers
- Hospital Nacional Alberto Sabogal Sologuren - EsSalud — Bellavista
- Hospital Nacional Edgardo Rebagliati Martins — Lima
Armenia · 1 center
- Hematology Center named after prof. R. Yeolyan — Yerevan
Canada · 1 center
- Children's Hospital of Eastern Ontario (CHEO) — Ottawa
Hungary · 1 center
- Semmelweis University — Budapest
India · 1 center
- National Cancer Institute, All India Institutes of Medical Sciences — New Delhi
Iran · 1 center
- Oncology Department of Golestan hospital — Tehran
Italy · 1 center
- IRCCS Istituto Ospedale Pediatrico Bambino Gesù — Rome
Taiwan · 1 center
- China Medical University Children's Hospital — Taichung
Identifiers
NCT: NCT05711992 · IMMONC0005