Genetic Study of Brain Tumors in Young Children

Central Nervous System Tumor, Pediatric Clinical Trial

Official title:

INI1 Mutation Analysis and Expression Profiling of Embryonal CNS Tumors

Clinical Trial Details — Status: Terminated

Administrative data

• NCT number: NCT00010101
• Other study ID #: CDR0000068445
• Secondary ID: PBTC-N03
• Status: Terminated
• Phase: N/A
• First received: February 2, 2001
• Last updated: July 19, 2011
• Start date: March 2001
• Est. completion date: August 2004

Study information

• Verified date: July 2011
• Source: Pediatric Brain Tumor Consortium
• Contact: n/a
• Is FDA regulated: No
• Health authority: United States: Federal Government
• Study type: Observational

Clinical Trial 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.

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.

Recruitment information / eligibility

• Status: Terminated
• Enrollment: 38
• Est. completion date: August 2004
• Est. primary completion date: August 2004
• Accepts healthy volunteers: No
• Gender: Both
• Age group: N/A to 3 Years

Eligibility

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

Study Design

Observational Model: Case-Only, Time Perspective: Cross-Sectional

Related Conditions & MeSH terms

• Central Nervous System Neoplasms
• Central Nervous System Tumor, Pediatric
• Nervous System Neoplasms

Locations

Country	Name	City	State
United States	Texas Children's Cancer Center	Houston	Texas
United States	Children's Hospital of Philadelphia	Philadelphia	Pennsylvania
United States	Children's Hospital of Pittsburgh	Pittsburgh	Pennsylvania
United States	Children's National Medical Center	Washington	District of Columbia

Sponsors (2)

Lead Sponsor	Collaborator
Pediatric Brain Tumor Consortium	National Cancer Institute (NCI)

Country where clinical trial is conducted

United States, 

References & Publications (1)

Pomeroy SL, Tamayo P, Gaasenbeek M, Sturla LM, Angelo M, McLaughlin ME, Kim JY, Goumnerova LC, Black PM, Lau C, Allen JC, Zagzag D, Olson JM, Curran T, Wetmore C, Biegel JA, Poggio T, Mukherjee S, Rifkin R, Califano A, Stolovitzky G, Louis DN, Mesirov JP, — View Citation

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Deletions and mutations of the INI1 gene in infants with AT/RT, medulloblastoma, PNET, or choroid plexus carcinoma			No