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Comprehensive Molecular Analysis of Tumor Samples Derived From Patients With Diffuse Brainstem Glioma - A Pilot Study

18 Years
Open (Enrolling)
Brain Tumors, Central Nervous System Tumors

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Trial Information

Comprehensive Molecular Analysis of Tumor Samples Derived From Patients With Diffuse Brainstem Glioma - A Pilot Study

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.


- 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

Inclusion Criteria

Inclusion Criteria

- Patients of any age with clinical and radiologic diagnosis of diffuse brainstem

- Patients with other high-grade gliomas originating in the brainstem

- Patients with focal gliomas (WHO grade I/II) of the brainstem

- Enrollment in the current version of the St. Jude Tissue Bank protocol for patients
whose tissue samples were obtained at diagnosis and who received treatment at SJCRH,
or correspondent tissue banking consent for patients treated in other institutions if
tissue was obtained prior to death (as applicable, depending on the standard of each

Exclusion Criteria

- Patients with any type of infiltrative low-grade (WHO grade II) or high-grade glioma
(WHO grade III and IV) originating outside the brainstem

- Patients harboring primary brainstem tumors with other histologic diagnoses (e.g.,

Type of Study:


Study Design:

Observational Model: Case-Only, Time Perspective: Prospective

Outcome Measure:

DNA gains and losses and RNA expression in tumor samples and normal tissue

Outcome Description:

Tissue samples will be obtained at autopsy.

Outcome Time Frame:

at autopsy

Safety Issue:


Principal Investigator

Alberto Broniscer, MD

Investigator Role:

Principal Investigator

Investigator Affiliation:

St. Jude Children's Research Hospital


United States: Institutional Review Board

Study ID:




Start Date:

June 2006

Completion Date:

June 2016

Related Keywords:

  • Brain Tumors
  • Central Nervous System Tumors
  • adult brain stem glioma
  • childhood brain stem glioma
  • Brain Neoplasms
  • Glioma
  • Nervous System Neoplasms
  • Central Nervous System Neoplasms



Stanford University Medical Center Stanford, California  94305-5408
St. Jude Children's Research Hospital Memphis, Tennessee  38105-2794
Seattle Children's Hospital Seattle, Washington  98105