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

This study has been completed.
National Cancer Institute (NCI)
Information provided by (Responsible Party):
Children's Oncology Group Identifier:
First received: November 1, 1999
Last updated: August 5, 2014
Last verified: August 2014

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 Intervention
Brain Tumors
Central Nervous System Tumors
Genetic: DNA ploidy analysis
Genetic: comparative genomic hybridization
Genetic: cytogenetic analysis
Genetic: fluorescence in situ hybridization

Study Type: Observational
Official Title: Molecular Biology of Pediatric Brain Tumors

Resource links provided by NLM:

Further study details as provided by Children's Oncology Group:

Primary Outcome Measures:
  • 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

Enrollment: 88
Study Start Date: December 1996
Study Completion Date: March 2007
Primary Completion Date: March 2006 (Final data collection date for primary outcome measure)
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.


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
  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: NCT00003096

  Show 61 Study Locations
Sponsors and Collaborators
Children's Oncology Group
National Cancer Institute (NCI)
Study Chair: Jaclyn A. Biegel, PhD Children's Hospital of Philadelphia
  More Information

Responsible Party: Children's Oncology Group Identifier: NCT00003096     History of Changes
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 )
Study First Received: November 1, 1999
Last Updated: August 5, 2014

Keywords provided by Children's Oncology Group:
untreated childhood supratentorial primitive neuroectodermal tumor
untreated childhood medulloblastoma

Additional relevant MeSH terms:
Brain Neoplasms
Nervous System Neoplasms
Central Nervous System Neoplasms
Neoplasms by Site
Brain Diseases
Central Nervous System Diseases
Nervous System Diseases processed this record on April 21, 2017