Genetic Study of Brain Tumors in Young Children

INI1 Mutation Analysis and Expression Profiling of Embryonal CNS Tumors

Status

Terminated

Phases

Unknown

Study type

Observational

Source

ClinicalTrials.gov

Registry ID

NCT00010101

Enrollment

Registered

2003-01-27

Start date

2001-03-31

Completion date

2004-08-31

Last updated

2011-07-20

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Central Nervous System Tumor, Pediatric

Keywords

childhood choroid plexus tumor, untreated childhood supratentorial primitive neuroectodermal tumor, untreated childhood medulloblastoma, childhood atypical teratoid/rhabdoid tumor

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.

Interventions

None listed

Study design

Observational model

CASE_ONLY

Time perspective

CROSS_SECTIONAL

Eligibility

Sex/Gender

ALL

Age

No minimum to 3 Years

Healthy volunteers

Inclusion criteria

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

Design outcomes

Primary

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

Countries

United States

Outcome results