INI1 Mutation Analysis and Expression Profiling of Embryonal CNS Tumors
- 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.
Observational Model: Case-Only, Time Perspective: Cross-Sectional
Deletions and mutations of the INI1 gene in infants with AT/RT, medulloblastoma, PNET, or choroid plexus carcinoma
Jaclyn A. Biegel, PhD
Children's Hospital of Philadelphia
United States: Federal Government
|Children's Hospital of Philadelphia||Philadelphia, Pennsylvania 19104|
|Children's National Medical Center||Washington, District of Columbia 20010-2970|
|Children's Hospital of Pittsburgh||Pittsburgh, Pennsylvania 15213|
|Texas Children's Cancer Center||Houston, Texas 77030-2399|