MedPath

DNA Analysis of Tumor Tissue Samples From Patients With Diffuse Brain Stem Glioma

Completed
Conditions
Central Nervous System Tumors
Brain Tumors
Registration Number
NCT00899834
Lead Sponsor
St. Jude Children's Research Hospital
Brief Summary

This multi-institutional study will prospectively collect tumor and constitutional tissue samples from patients with diffuse brainstem glioma and other types of brainstem gliomas either during therapy or at autopsy to perform an extensive analysis of genetic and molecular abnormalities in these tumors.

Detailed Description

Since very little is known about the biology of diffuse brainstem glioma, the goal of this protocol is to undertake a systematic analysis of DNA abnormalities, and of RNA and protein expression in prospectively collected fresh-frozen and fixed tumor samples and correspondent normal tissue from patients affected with this tumor.

OBJECTIVES:

* Perform genome-wide analysis of DNA gains and losses and RNA expression in tumor samples and normal tissue from patients with diffuse brain stem glioma.

* Identify regions of genomic gain or loss using either array comparative genomic hybridization or single nucleotide polymorphism arrays.

* Investigate genome-wide expression patterns of RNA derived from tumor samples and normal tissue from these patients via Affymetrix gene expression profiling.

* Validate the results of the genome-wide analysis by conducting further evaluation of candidate genes or by investigating the expression of relevant gene products at the RNA and protein levels.

* Perform analysis of mutations in candidate tumor-suppressor genes and oncogenes (including whole genome sequencing studies) using direct sequence analysis of tumor DNA and confirm the tumor-specific nature of these mutations by analyzing the correspondent constitutional DNA.

* Confirm genomic gains or losses identified by means of fluorescence in situ hybridization (FISH) performed on tissue microarray using non-neoplastic brain tissue from each patient as control when available.

* Explore protein expression patterns identified by immunohistochemistry or western blot and compare them to normal brain stem tissue.

* To obtain a follow-up (questionnaire and/or telephone interview) after autopsy with parent(s), legal guardian(s), or family members of research participants in the United States to assess aspects associated with this procedure, including potential benefits and drawbacks

Recruitment & Eligibility

Status
COMPLETED
Sex
All
Target Recruitment
81
Inclusion Criteria

Not provided

Exclusion Criteria

Not provided

Study & Design

Study Type
OBSERVATIONAL
Study Design
Not specified
Primary Outcome Measures
NameTimeMethod
DNA gains and losses and RNA expression in tumor samples and normal tissueat autopsy

Tissue samples will be obtained at autopsy.

Genome-wide expression patterns of RNA in tumor samples and normal tissue as assessed by Affymetrix gene expression profilingat autopsy

Tissue samples will be obtained at autopsy.

Validation of results of the genome-wide analysisat autopsy

Tissue samples will be obtained at autopsy.

Mutations in candidate tumor-suppressor genes and oncogenes as assessed by direct sequencing analysis of tumor DNAat autopsy

Tissue samples will be obtained at autopsy.

Confirmation of the tumor-specific nature of candidate tumor-suppressor gene and oncogene mutation as assessed by the correspondent constitutional DNAat autopsy

Tissue samples will be obtained at autopsy.

Protein expression patterns as assessed by immunohistochemistry or western blot compared to normal brain stem tissueat autopsy

Tissue samples will be obtained at autopsy.

Confirmation of genomic gains or losses as assessed by fluorescence in situ hybridization (FISH) performed on tissue microarray (TMA) using non-neoplastic brain tissueat autopsy

Tissue samples will be obtained at autopsy.

Secondary Outcome Measures
NameTimeMethod
Assess aspects associated with this procedure, including potential benefits and drawbacksat autopsy

Tissue samples will be obtained at autopsy.

Trial Locations

Locations (3)

St. Jude Children's Research Hospital

🇺🇸

Memphis, Tennessee, United States

Stanford University Medical Center

🇺🇸

Palo Alto, California, United States

Seattle Children's Hospital

🇺🇸

Seattle, Washington, United States

© Copyright 2025. All Rights Reserved by MedPath