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Genetic Study of Brain Tumors in Young Children

This study has been terminated.
(Poor accrual)
Sponsor:
Collaborator:
National Cancer Institute (NCI)
Information provided by:
Pediatric Brain Tumor Consortium
ClinicalTrials.gov Identifier:
NCT00010101
First received: February 2, 2001
Last updated: July 19, 2011
Last verified: July 2011
History of Changes
  Purpose

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
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:

U.S. FDA Resources

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:

OBJECTIVES:

  • 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.

  Eligibility

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.

Criteria

DISEASE CHARACTERISTICS:

  • 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

PATIENT CHARACTERISTICS:

Age:

  • Under 3

Performance status:

  • Not specified

Life expectancy:

  • Not specified

Hematopoietic:

  • Not specified

Hepatic:

  • Not specified

Renal:

  • Not specified

PRIOR CONCURRENT THERAPY:

Biologic therapy:

  • Not specified

Chemotherapy:

  • No prior chemotherapy

Endocrine therapy:

  • Prior steroids allowed

Radiotherapy:

  • No prior radiotherapy

Surgery:

  • Not specified

Other:

  • No concurrent investigational agents
  Contacts and Locations
Please refer to this study by its ClinicalTrials.gov identifier: NCT00010101

Locations
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)
Investigators
Study Chair: Jaclyn A. Biegel, PhD Children's Hospital of Philadelphia
  More Information

Publications:

Responsible Party: James M. Boyett/PBTC Operations and Biostatistics Center Executive Director, Pediatric Brain Tumor Consortium
ClinicalTrials.gov 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:
Nervous System Neoplasms
Central Nervous System Neoplasms
Neoplasms by Site
Neoplasms
Nervous System Diseases

ClinicalTrials.gov processed this record on June 18, 2013