Genetic Study of Brain Tumors in Young Children

This study has been terminated.
(Poor accrual)
National Cancer Institute (NCI)
Information provided by:
Pediatric Brain Tumor Consortium Identifier:
First received: February 2, 2001
Last updated: July 19, 2011
Last verified: July 2011

RATIONALE: Genetic studies may help in understanding the genetic processes involved in the development of some types of cancer.

PURPOSE: Genetic study to understand how genes may be involved in the development of brain tumors in young children.

Central Nervous System Tumor, Pediatric

Study Type: Observational
Study Design: Observational Model: Case-Only
Time Perspective: Cross-Sectional
Official Title: INI1 Mutation Analysis and Expression Profiling of Embryonal CNS Tumors

Resource links provided by NLM:

Further study details as provided by Pediatric Brain Tumor Consortium:

Primary Outcome Measures:
  • Deletions and mutations of the INI1 gene in infants with AT/RT, medulloblastoma, PNET, or choroid plexus carcinoma [ Designated as safety issue: No ]

Biospecimen Retention:   Samples With DNA

Tumor samples

Enrollment: 38
Study Start Date: March 2001
Study Completion Date: August 2004
Primary Completion Date: August 2004 (Final data collection date for primary outcome measure)
Detailed Description:


  • Determine the frequency and type of deletions and mutations of the INI1 gene in infants with embryonal central nervous system tumors.
  • Compare the gene expression profiles in infants with atypical teratoid/rhabdoid tumors vs medulloblastoma or primitive neuroectodermal tumor.

OUTLINE: This is a multicenter study.

Tumor samples are analyzed by fluorescence in situ hybridization (FISH) for deletions of INI1 gene in chromosome band 22q11.2. Tumors without demonstration of deletions of INI1 gene by FISH are examined by polymerase chain reaction (PCR)-based microsatellite analysis for loss of heterozygosity using markers that map to 22q11.2.

DNA from tumor tissue is analyzed for mutations in the exons of the INI1 gene. Isolated matched normal DNA may be analyzed for identification of germline mutations. Parental DNA may be analyzed to identify inherited germline mutations of the INI1 gene.

The patient's physician may receive the results of the genetic testing. The results do not influence the type or duration of treatment.

PROJECTED ACCRUAL: A total of 50 patients will be accrued for this study within 25 months.


Ages Eligible for Study:   up to 3 Years
Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population

Tissue samples from infants (< 3 years old) with histologically confirmed primary intracranial CNS medulloblastoma/PNET, atypical teratoid/rhabdoid tumor, or choroid plexus carcinoma and with no prior chemotherapy, radiotherapy, or treatment from any other investigational agent will be used for this research study. Patients who meet the eligibility criteria, are treated at a PBTC institution that has IRB approval of this study, and consent to the usage of stored tumor specimens for the study objectives constitute the study population.



  • Histologically confirmed primary intracranial central nervous system tumor

    • Medulloblastoma
    • Primitive neuroectodermal tumor
    • Atypical teratoid/rhabdoid tumor
    • Choroid plexus carcinoma
  • Potential enrollment on PBTC-001 therapeutic protocol



  • Under 3

Performance status:

  • Not specified

Life expectancy:

  • Not specified


  • Not specified


  • Not specified


  • Not specified


Biologic therapy:

  • Not specified


  • No prior chemotherapy

Endocrine therapy:

  • Prior steroids allowed


  • No prior radiotherapy


  • Not specified


  • No concurrent investigational agents
  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its identifier: NCT00010101

United States, District of Columbia
Children's National Medical Center
Washington, District of Columbia, United States, 20010-2970
United States, Pennsylvania
Children's Hospital of Philadelphia
Philadelphia, Pennsylvania, United States, 19104-4318
Children's Hospital of Pittsburgh
Pittsburgh, Pennsylvania, United States, 15213
United States, Texas
Texas Children's Cancer Center
Houston, Texas, United States, 77030-2399
Sponsors and Collaborators
Pediatric Brain Tumor Consortium
National Cancer Institute (NCI)
Study Chair: Jaclyn A. Biegel, PhD Children's Hospital of Philadelphia
  More Information

Responsible Party: James M. Boyett/PBTC Operations and Biostatistics Center Executive Director, Pediatric Brain Tumor Consortium Identifier: NCT00010101     History of Changes
Other Study ID Numbers: CDR0000068445, PBTC-N03
Study First Received: February 2, 2001
Last Updated: July 19, 2011
Health Authority: United States: Federal Government

Keywords provided by Pediatric Brain Tumor Consortium:
childhood choroid plexus tumor
untreated childhood supratentorial primitive neuroectodermal tumor
untreated childhood medulloblastoma
childhood atypical teratoid/rhabdoid tumor

Additional relevant MeSH terms:
Central Nervous System Neoplasms
Nervous System Neoplasms
Neoplasms by Site
Nervous System Diseases processed this record on October 13, 2015