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| ID | Type | Description | Link |
|---|---|---|---|
| PBTC-N03 |
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Poor accrual
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| Name | Class |
|---|---|
| National Cancer Institute (NCI) | NIH |
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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.
OBJECTIVES:
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.
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| Measure | Description | Time Frame |
|---|---|---|
| Deletions and mutations of the INI1 gene in infants with AT/RT, medulloblastoma, PNET, or choroid plexus carcinoma |
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DISEASE CHARACTERISTICS:
Histologically confirmed primary intracranial central nervous system tumor
Potential enrollment on PBTC-001 therapeutic protocol
PATIENT CHARACTERISTICS:
Age:
Performance status:
Life expectancy:
Hematopoietic:
Hepatic:
Renal:
PRIOR CONCURRENT THERAPY:
Biologic therapy:
Chemotherapy:
Endocrine therapy:
Radiotherapy:
Surgery:
Other:
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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.
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| Name | Affiliation | Role |
|---|---|---|
| Jaclyn A. Biegel, PhD | Children's Hospital of Philadelphia | Study Chair |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Children's National Medical Center | Washington D.C. | District of Columbia | 20010-2970 | United States | ||
| PubMed Identifier | Type | Citation | Retractions |
|---|---|---|---|
| 11807556 | Result | 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. |
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| ID | Term |
|---|---|
| D016543 | Central Nervous System Neoplasms |
| D016545 | Choroid Plexus Neoplasms |
| D018335 | Rhabdoid Tumor |
| ID | Term |
|---|---|
| D009423 | Nervous System Neoplasms |
| D009371 | Neoplasms by Site |
| D009369 | Neoplasms |
| D009422 | Nervous System Diseases |
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Tumor samples
| Children's Hospital of Philadelphia |
| Philadelphia |
| Pennsylvania |
| 19104-4318 |
| United States |
| Children's Hospital of Pittsburgh | Pittsburgh | Pennsylvania | 15213 | United States |
| Texas Children's Cancer Center | Houston | Texas | 77030-2399 | United States |
| D002551 |
| Cerebral Ventricle Neoplasms |
| D001932 | Brain Neoplasms |
| D001927 | Brain Diseases |
| D002493 | Central Nervous System Diseases |
| D018193 | Neoplasms, Complex and Mixed |
| D009370 | Neoplasms by Histologic Type |