Clinical trial NCT00010101: Genetic Study of Brain Tumors in Young Children
Official title: INI1 Mutation Analysis and Expression Profiling of Embryonal CNS Tumors
Study type: OBSERVATIONAL
Overall status: TERMINATED
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
Lead sponsor: Pediatric Brain Tumor Consortium
Sponsor class: NETWORK
Collaborators: name: National Cancer Institute (NCI)
First posted: 2003-01-27
Enrollment: 38
Sex: ALL
Maximum age (years): 3
Standard ages: CHILD
Accepts healthy volunteers: no
Observational model: CASE_ONLY
Time perspective: CROSS_SECTIONAL
Sampling method: NON_PROBABILITY_SAMPLE
Study population: Tissue samples from infants (\< 3 years old) with histologically confirmed primary intracranial CNS medulloblastoma/PNET, atypical teratoid/rhabdoid tumor, or choroid plexus carcinoma and with no prior chemotherapy, radiotherapy, or treatment from any other investigational agent will be used for this research study. Patients who meet the eligibility criteria, are treated at a PBTC institution that has IRB approval of this study, and consent to the usage of stored tumor specimens for the study objectives constitute the study population.

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.

Eligibility 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

Primary outcomes:
measure: Deletions and mutations of the INI1 gene in infants with AT/RT, medulloblastoma, PNET, or choroid plexus carcinoma
Secondary outcomes:
Other outcomes:
Locations:
city: Washington
country: United States
facility: Children's National Medical Center
state: District of Columbia
city: Philadelphia
country: United States
facility: Children's Hospital of Philadelphia
state: Pennsylvania
city: Pittsburgh
country: United States
facility: Children's Hospital of Pittsburgh
state: Pennsylvania
city: Houston
country: United States
facility: Texas Children's Cancer Center
state: Texas
Study officials:
affiliation: Children's Hospital of Philadelphia
name: Jaclyn A. Biegel, PhD
role: STUDY_CHAIR
References:
citation: 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, Lander ES, Golub TR. Prediction of central nervous system embryonal tumour outcome based on gene expression. Nature. 2002 Jan 24;415(6870):436-42. doi: 10.1038/415436a.