Genetic Study of Brain Tumors in Young Children

Sponsor

Pediatric Brain Tumor Consortium (Other)

Overall Status

Terminated

CT.gov ID

NCT00010101

Collaborator

National Cancer Institute (NCI) (NIH)

Enrollment

Locations

Duration (Months)

9.5

Patients Per Site

0.2

Patients Per Site Per Month

Study Details

Study Description

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	Intervention/Treatment	Phase
Central Nervous System Tumor, Pediatric

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.

Study Design

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 :

Mar 1, 2001

Actual Primary Completion Date :

Aug 1, 2004

Actual Study Completion Date :

Aug 1, 2004

Outcome Measures

Primary Outcome Measures

Deletions and mutations of the INI1 gene in infants with AT/RT, medulloblastoma, PNET, or choroid plexus carcinoma []

Eligibility Criteria

Criteria

Ages Eligible for Study:

N/A to 3 Years

Sexes Eligible for Study:

All

Accepts Healthy Volunteers:

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

Locations

	Site	City	State	Country	Postal Code
1	Children's National Medical Center	Washington	District of Columbia	United States	20010-2970
2	Children's Hospital of Philadelphia	Philadelphia	Pennsylvania	United States	19104-4318
3	Children's Hospital of Pittsburgh	Pittsburgh	Pennsylvania	United States	15213
4	Texas Children's Cancer Center	Houston	Texas	United States	77030-2399