Genetic Study of Brain Tumors in Young Children

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details. Identifier: NCT00010101
Recruitment Status : Terminated (Poor accrual)
First Posted : January 27, 2003
Last Update Posted : July 20, 2011
National Cancer Institute (NCI)
Information provided by:
Pediatric Brain Tumor Consortium

Brief Summary:

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.

Condition or disease
Central Nervous System Tumor, Pediatric

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.

Study Type : Observational
Actual Enrollment : 38 participants
Observational Model: Case-Only
Time Perspective: Cross-Sectional
Official Title: INI1 Mutation Analysis and Expression Profiling of Embryonal CNS Tumors
Study Start Date : March 2001
Actual Primary Completion Date : August 2004
Actual Study Completion Date : August 2004

Primary Outcome Measures :
  1. Deletions and mutations of the INI1 gene in infants with AT/RT, medulloblastoma, PNET, or choroid plexus carcinoma

Biospecimen Retention:   Samples With DNA
Tumor samples

Information from the National Library of Medicine

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Ages Eligible for Study:   up to 3 Years   (Child)
Sexes Eligible for Study:   All
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

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): 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

Publications of Results:
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
First Posted: January 27, 2003    Key Record Dates
Last Update Posted: July 20, 2011
Last Verified: July 2011

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:
Nervous System Neoplasms
Central Nervous System Neoplasms
Neoplasms by Site
Nervous System Diseases