Testing Cerebrospinal Fluid for Cell-free Tumor DNA in Children, Adolescents, and Young Adults with Brain Tumors

Launched by PEDIATRIC BRAIN TUMOR CONSORTIUM · Jun 28, 2023

Keywords

ClinConnect Summary

This clinical trial is studying the use of a special test called "liquid biopsy" to find tumor DNA in the cerebrospinal fluid (CSF) of children, adolescents, and young adults with different types of brain tumors. The goal is to see if this non-invasive method can replace more risky procedures like surgery to diagnose and monitor brain tumors. Participants will be asked to provide extra samples of their CSF, which is the fluid surrounding the brain and spine, along with a small blood sample. This research could help doctors better understand brain tumors and improve care for young patients.

To be eligible for this study, participants must be 21 years old or younger and have a known or suspected brain tumor. They should also be undergoing a procedure that requires CSF collection, which is often done safely with a needle in the lower back. While there is no treatment provided in this study, patients will receive information about the results of their tests, which may help guide their ongoing care. The study will involve up to 300 participants and may continue to monitor them for up to five years.

Gender

ALL

Eligibility criteria

• Inclusion Criteria:
• • All patients must have a known or suspected diagnosis (based on pathology or imaging) of a primary brain tumor. All children and adolescent/young adult (AYA) patients =\< 21 years of age are eligible.
• AYA patients \< 40 are eligible with a primary brain tumor entity more common in children than adults. This includes:
• • medulloblastoma
• • non-medulloblastoma embryonal brain tumors
• • atypical teratoid rhabdoid tumors (ATRT)
• • ependymoma
• • CNS germ cell tumors
• • Diffuse midline glioma, H3K27M-altered
• • Diffuse hemispheric glioma, H3 G34-mutant
• • pineoblastoma
• • diffuse leptomeningeal glioneuronal tumor
• • diffuse brainstem glioma
• • pilocytic astrocytoma
• • choroid plexus carcinoma
• ELIGIBLE PATIENTS WILL BE STRATIFIED BY DIAGNOSIS AS FOLLOWS:
• • Stratum 1: Medulloblastoma
• • Stratum 2: High-grade glioma (IDH-wildtype) and DIPG
• • o DIPG patients must meet clinical and imaging requirements for DIPG diagnosis. Patients with newly diagnosed diffuse intrinsic pontine gliomas (DIPGs), defined as tumors with a pontine epicenter and diffuse involvement of 2/5 or more of the pons, are eligible without histologic confirmation. Patients with brainstem tumors that do not meet these criteria or not considered to be typical intrinsic pontine gliomas will only be eligible for Stratum B if the tumors have been biopsied and are proven to be an anaplastic astrocytoma, glioblastoma multiforme, gliosarcoma, anaplastic mixed glioma or fibrillary astrocytoma.
• • Stratum 3: Low-grade glioma (IDH-wildtype) with multifocal/disseminated and/or leptomeningeal disease
• • Stratum 4: Diffuse Leptomeningeal Glioneuronal Tumor
• • Stratum 5: Pineoblastoma
• • Stratum 6: All other eligible tumor types
• • DISEASE STATUS: Participants will be eligible at any stage of disease.
• • AGE: All children and adolescent/young adult (AYA) patients =\< 21 years of age are eligible. AYA patients \< 40 are eligible with a primary brain tumor entity more common in children than adults
• • CEREBROSPINAL FLUID (CSF) COLLECTION: Patients must have a clinical indication for at least one CSF (lumbar, cisternal or ventricular) collection, or clinical circumstance where CSF sampling is feasible with no or minimal risk (e.g., endoscopic third ventriculostomy, external ventricular drain).
• • INFORMED CONSENT: The patient or parent/guardian can understand the consent and is willing to sign a written informed consent document according to institutional guidelines.
• Exclusion Criteria:
• • DIAGNOSIS: Given the extremely low rate of CSF cfDNA positivity in patients with localized, non-disseminated low-grade glioma, those patients will be excluded from participation.