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

Description

Recent advances in technology have allowed for the detection of cell-free DNA (cfDNA). cfDNA is tumor DNA that can be found in the fluid that surrounds the brain and spinal cord (called cerebrospinal fluid or CSF) and in the blood of patients with brain tumors. The detection of cfDNA in blood and CSF is known as a "liquid biopsy" and is non-invasive, meaning it does not require a surgery or biopsy of tumor tissue. Multiple studies in other cancer types have shown that cfDNA can be used for diagnosis, to monitor disease response to treatment, and to understand the genetic changes that occur in brain tumors over time. Study doctors hope that by studying these tests in pediatric brain tumor patients, they will be able to use liquid biopsy in place of tests that have more risks for patients, like surgery. There is no treatment provided on this study. Patients who have CSF samples taken as part of regular care will be asked to provide extra samples for this study. The study doctor will collect a minimum of one extra tube of CSF (about 1 teaspoon or 5 mL) for this study. If the patients doctor thinks it is safe, up to 2 tubes of CSF (about 4 teaspoons or up to 20 mL) may be collected. CSF will be collected through the indwelling catheter device or through a needle inserted into the lower part of the patient's spine (known as a spinal tap or lumbar puncture). A required blood sample (about ½ a teaspoon or 2 3 mL) will be collected once at the start of the study. This sample will be used to help determine changes found in the CSF. Blood will be collected from the patient's central line or arm as a part of regular care. An optional tumor tissue if obtained within 8 weeks of CSF collection will be collected if available. Similarities between changes in the DNA of the tissue that has caused the tumor to form and grow with the cfDNA from CSF will be compared. This will help understand if CSF can be used instead of tumor tissue for diagnosis. Up to 300 people will take part in this study. This study will use genetic tests that may identify changes in the genes in the CSF. The report of the somatic mutations (the mutations that are found in the tumor only) will become part of the medical record. The results of the cfDNA sequencing will be shared with the patient. The study doctor will discuss what the results mean for the patient and patient's diagnosis and treatment. Looking for inheritable mutations in normal cells (blood) is not the purpose of this study. Genetic tests of normal blood can reveal information about the patient and also about the their relatives. The doctor will discuss what the tests results may mean for the patient and the their family. Patient may be monitored on this study for up to 5 years.

Conditions

Anaplastic Astrocytoma, Diffuse Brainstem Glioma, Glioblastoma Multiforme, High-grade Astrocytoma NOS, Fibrillary Astrocytoma, Low-Grade Astrocytoma, Nos, Pilocytic Astrocytoma, Choroid Plexus Carcinoma, CNS Primary Tumor, Nos, Atypical Teratoid/Rhabdoid Tumor, Medulloblastoma, Supratentorial Primitive Neuroectodermal Tumor, Ependymoma, NOS, Anaplastic Oligodendroglioma, Oligodendroglioma, Nos, CNS Germ Cell Tumor, Pineoblastoma, Diffuse Leptomeningeal Glioneuronal Tumor

Study Overview

Study Details

Study overview

Recent advances in technology have allowed for the detection of cell-free DNA (cfDNA). cfDNA is tumor DNA that can be found in the fluid that surrounds the brain and spinal cord (called cerebrospinal fluid or CSF) and in the blood of patients with brain tumors. The detection of cfDNA in blood and CSF is known as a "liquid biopsy" and is non-invasive, meaning it does not require a surgery or biopsy of tumor tissue. Multiple studies in other cancer types have shown that cfDNA can be used for diagnosis, to monitor disease response to treatment, and to understand the genetic changes that occur in brain tumors over time. Study doctors hope that by studying these tests in pediatric brain tumor patients, they will be able to use liquid biopsy in place of tests that have more risks for patients, like surgery. There is no treatment provided on this study. Patients who have CSF samples taken as part of regular care will be asked to provide extra samples for this study. The study doctor will collect a minimum of one extra tube of CSF (about 1 teaspoon or 5 mL) for this study. If the patients doctor thinks it is safe, up to 2 tubes of CSF (about 4 teaspoons or up to 20 mL) may be collected. CSF will be collected through the indwelling catheter device or through a needle inserted into the lower part of the patient's spine (known as a spinal tap or lumbar puncture). A required blood sample (about ½ a teaspoon or 2 3 mL) will be collected once at the start of the study. This sample will be used to help determine changes found in the CSF. Blood will be collected from the patient's central line or arm as a part of regular care. An optional tumor tissue if obtained within 8 weeks of CSF collection will be collected if available. Similarities between changes in the DNA of the tissue that has caused the tumor to form and grow with the cfDNA from CSF will be compared. This will help understand if CSF can be used instead of tumor tissue for diagnosis. Up to 300 people will take part in this study. This study will use genetic tests that may identify changes in the genes in the CSF. The report of the somatic mutations (the mutations that are found in the tumor only) will become part of the medical record. The results of the cfDNA sequencing will be shared with the patient. The study doctor will discuss what the results mean for the patient and patient's diagnosis and treatment. Looking for inheritable mutations in normal cells (blood) is not the purpose of this study. Genetic tests of normal blood can reveal information about the patient and also about the their relatives. The doctor will discuss what the tests results may mean for the patient and the their family. Patient may be monitored on this study for up to 5 years.

CSF Cell-free Tumor DNA (CSF CfDNA) Liquid Biopsies for Pediatric, Adolescent, and Young Adult Patients with Primary Brain Tumors

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

Condition
Anaplastic Astrocytoma
Intervention / Treatment

-

Contacts and Locations

Los Angeles

Children's Hospital of Los Angeles, Los Angeles, California, United States, 90026

Palo Alto

Lucille Packard Children's Hospital Stanford University, Palo Alto, California, United States, 94304

Washington

Children's National Medical Center, Washington, District of Columbia, United States, 20010

Chicago

Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, Illinois, United States, 60611

New York

Memorial Sloan Kettering Cancer Center, New York, New York, United States, 10065

Cincinnati

Cincinnati Childrens Hospital Medical Center, Cincinnati, Ohio, United States, 45229

Columbus

Nationwide Childrens Hospital, Columbus, Ohio, United States, 43205

Pittsburgh

Children's Hospital of Pittsburgh of UPMC, Pittsburgh, Pennsylvania, United States, 15224

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

For general information about clinical research, read Learn About Studies.

Eligibility Criteria

  • * 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
  • * Stratum 1: Medulloblastoma
  • * Stratum 2: High-grade glioma (IDH-wildtype) and DIPG
  • * 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.
  • * 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.

Ages Eligible for Study

to 40 Years

Sexes Eligible for Study

ALL

Accepts Healthy Volunteers

No

Collaborators and Investigators

Pediatric Brain Tumor Consortium,

Alexandra Miller, MD, PhD, STUDY_CHAIR, NYU Langone Health

Study Record Dates

2028-07-12