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INI1 Mutation Analysis and Expression Profiling of Embryonal CNS Tumors


N/A
N/A
3 Years
Not Enrolling
Both
Central Nervous System Tumor, Pediatric

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Trial Information

INI1 Mutation Analysis and Expression Profiling of Embryonal CNS Tumors


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.

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

Type of Study:

Observational

Study Design:

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

Outcome Measure:

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

Safety Issue:

No

Principal Investigator

Jaclyn A. Biegel, PhD

Investigator Role:

Study Chair

Investigator Affiliation:

Children's Hospital of Philadelphia

Authority:

United States: Federal Government

Study ID:

CDR0000068445

NCT ID:

NCT00010101

Start Date:

March 2001

Completion Date:

August 2004

Related Keywords:

  • Central Nervous System Tumor, Pediatric
  • childhood choroid plexus tumor
  • untreated childhood supratentorial primitive neuroectodermal tumor
  • untreated childhood medulloblastoma
  • childhood atypical teratoid/rhabdoid tumor
  • Nervous System Neoplasms
  • Central Nervous System Neoplasms

Name

Location

Children's Hospital of PhiladelphiaPhiladelphia, Pennsylvania  19104
Children's National Medical CenterWashington, District of Columbia  20010-2970
Children's Hospital of PittsburghPittsburgh, Pennsylvania  15213
Texas Children's Cancer CenterHouston, Texas  77030-2399