Genetic Study of Brain Tumors in Young Children

Terminated

• Conditions: Central Nervous System Tumor, Pediatric

• Registration Number: NCT00010101
• Lead Sponsor: 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.

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 Timeline

• Study First Submitted: 2001-02-02
• Study Start: 2001-03
• Study First Submitted QC: 2003-01-26
• Study First Posted: 2003-01-27
• Primary Completion: 2004-08
• Study Completion: 2004-08
• Status Verified: 2011-07
• Last Update Submitted: 2011-07-19
• Last Update Posted: 2011-07-20

Recruitment & Eligibility

• Status: TERMINATED
• Sex: All
• Target Recruitment: 38

Inclusion Criteria

Not provided

Exclusion Criteria

Not provided

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

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

Trial Locations

Locations (4)

Texas Children's Cancer Center; 🇺🇸 Houston, Texas, United States

Children's Hospital of Pittsburgh; 🇺🇸 Pittsburgh, Pennsylvania, United States

Children's National Medical Center; 🇺🇸 Washington, District of Columbia, United States

Children's Hospital of Philadelphia; 🇺🇸 Philadelphia, Pennsylvania, United States