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Gene Testing to Help in the Diagnosis and Treatment of Childhood Brain Tumors

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: NCT00003096
Recruitment Status : Completed
First Posted : January 27, 2003
Last Update Posted : August 6, 2014
National Cancer Institute (NCI)
Information provided by (Responsible Party):
Children's Oncology Group

Brief Summary:

RATIONALE: Analyzing the number and structure of genes found in a child's cancer cells may help doctors improve methods of diagnosing and treating children with brain tumors.

PURPOSE: This clinical trial is studying the number and structure of genes in cancer cells of children with brain tumors.

Condition or disease Intervention/treatment
Brain Tumors Central Nervous System Tumors Genetic: DNA ploidy analysis Genetic: comparative genomic hybridization Genetic: cytogenetic analysis Genetic: fluorescence in situ hybridization

Detailed Description:


  • Determine the chromosomal gains and losses by DNA ploidy analysis and comparative genomic hybridization in patients with primitive neuroectodermal tumors or medulloblastomas.
  • Determine the frequency of specific chromosomal abnormalities, including deletions of chromosomal regions 6, 17, and 22, in these patients.
  • Perform a statistical analysis to determine possible associations of chromosomal abnormalities and DNA ploidy with patient age, tumor histology, tumor location, extent of disease, and event-free survival.

OUTLINE: DNA ploidy analysis will be performed to determine the overall level of aneuploidy. The results are compared to the comparative genomic hybridization (CGH) analysis, which is used to demonstrate tumor-specific losses or gains, including amplification, of specific chromosomal regions. Tumors are also screened for specific abnormalities by fluorescent in situ hybridization (FISH), which detects chromosomal rearrangements, including balanced translocations, deletions, amplifications, etc. PCR-based microsatellite polymorphism analysis may also be performed.

Primitive neuroectodermal tumors (PNETs) are screened by FISH with a distal 17p13.3 cosmid and a 17q25 cosmid to identify tumors with a 17p deletion. Atypical teratoid/rhabdoid tumors and PNETs without a 17p deletion are screened by FISH with a series of cosmids from 22q11.2. PNETs are also screened by interphase FISH with cosmids from chromosome 6 to identify tumors with deletions.

Patients do not receive the results of the genetic testing and the results do not influence the type or duration of treatment.

PROJECTED ACCRUAL: This study will accrue 360 specimens.

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Study Type : Observational
Actual Enrollment : 88 participants
Official Title: Molecular Biology of Pediatric Brain Tumors
Study Start Date : December 1996
Actual Primary Completion Date : March 2006
Actual Study Completion Date : March 2007

Primary Outcome Measures :
  1. Frequency of specific chromosomal gains, losses and rearrangements in a series of infratentorial and supratentorial PNETS
    Estimate the frequency of specific chromosomal gains, losses and rearrangements in a series of infratentorial and supratentorial PNETS diagnosed in children

Information from the National Library of Medicine

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Ages Eligible for Study:   up to 20 Years   (Child, Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
Children with primitive neuroectodermal tumors / medulloblastoma (PNET/Mb).


  • Histologically confirmed primary CNS malignancy consistent with primitive neuroectodermal tumor, medulloblastoma, or atypical teratoid/rhabdoid tumor
  • Must be entered on CCG-9921, CCG-9931, CCG-A9961, CCG-99703 or other front-line studies developed from CCG-90024 or CCG-90025
  • Retrospective specimens also obtained from CCG-921, CCG-923, CCG-9892, CCG-9921, and CCG-9931



  • Under 21

Performance status:

  • See Disease Characteristics

Life expectancy:

  • See Disease Characteristics


  • See Disease Characteristics


  • See Disease Characteristics


  • See Disease Characteristics


Biologic therapy:

  • Not specified


  • Not specified

Endocrine therapy

  • Not specified


  • No prior radiotherapy


  • Not specified

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): NCT00003096

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Sponsors and Collaborators
Children's Oncology Group
National Cancer Institute (NCI)
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Study Chair: Jaclyn A. Biegel, PhD Children's Hospital of Philadelphia
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Responsible Party: Children's Oncology Group Identifier: NCT00003096    
Other Study ID Numbers: B971
COG-B971 ( Other Identifier: Children's Oncology Group )
CCG-B971 ( Other Identifier: Children's Cancer Group )
CDR0000065814 ( Other Identifier: Clinical )
First Posted: January 27, 2003    Key Record Dates
Last Update Posted: August 6, 2014
Last Verified: August 2014
Keywords provided by Children's Oncology Group:
untreated childhood supratentorial primitive neuroectodermal tumor
untreated childhood medulloblastoma
Additional relevant MeSH terms:
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Brain Neoplasms
Nervous System Neoplasms
Central Nervous System Neoplasms
Neoplasms by Site
Brain Diseases
Central Nervous System Diseases
Nervous System Diseases