Studying Gene Expression in Samples From Patients With Rhabdoid Tumors

This study is ongoing, but not recruiting participants.
National Cancer Institute (NCI)
Information provided by (Responsible Party):
Children's Oncology Group Identifier:
First received: March 10, 2012
Last updated: September 30, 2015
Last verified: May 2015

RATIONALE: Studying samples of tumor tissue from patients with cancer in the laboratory may help doctors learn more about changes that occur in DNA and find biomarkers related to cancer. It may also help doctors find better ways to treat cancer.

PURPOSE: This research trial studies gene expression in samples from patients with rhabdoid tumors.

Condition Intervention
Brain and Central Nervous System Tumors
Kidney Cancer
Genetic: DNA analysis
Genetic: gene expression analysis
Genetic: mutation analysis
Genetic: protein expression analysis
Other: immunohistochemistry staining method
Other: laboratory biomarker analysis

Study Type: Observational
Study Design: Observational Model: Case-Only
Time Perspective: Retrospective
Official Title: Determination of the Frequency of BRG1 and BRM Loss in Rhabdoid Tumors

Resource links provided by NLM:

Further study details as provided by Children's Oncology Group:

Primary Outcome Measures:
  • Absence or presence BRG1 and BRM expression in rhabdoid tumors [ Designated as safety issue: No ]
  • Mechanism of suppression of BRG1 and BRM genes [ Designated as safety issue: No ]

Estimated Enrollment: 25
Study Start Date: March 2012
Estimated Primary Completion Date: January 2100 (Final data collection date for primary outcome measure)
Detailed Description:


  • To determine if BRM is silenced in the majority, if not all, rhabdoid tumors by immunohistochemistry in primary tumors.
  • To determine if BRG1 is silenced in the majority, if not all, rhabdoid tumors by immunohistochemistry in primary tumors.
  • To determine if GATA1 and/or HDAC2 is overexpressed in the same tumors that lack BRM expression.
  • To determine if BRM promoter polymorphisms correlate with loss of BRM expression in primary rhabdoid tumors.
  • To determine how BRG1 is silenced in primary rhabdoid tumors by sequencing BRG1 exons in genomic DNA derived from frozen samples.

OUTLINE: Archived tumor tissue samples are analyzed for BRM, BRG1, GATA1, and/or HDAC2 expression by immunohistochemistry. BRM- and BRG1-negative samples are also analyzed.


Ages Eligible for Study:   up to 120 Years
Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
Patients diagnosed with rhabdoid tumors


  • Tumor samples from patients diagnosed with rhabdoid tumors
  • Matched frozen tumor tissue from BRG1-negative tumors (preferred) or matched genomic DNA from tumors, 100 ng per tumor from BRG1-negative tumors
  • Any source of DNA from BRG1-negative tumors (tumors, blood, etc.)
  • Matched frozen tumor tissue from BRM-negative tumors to confirm that BRM is not mutated or altered but rather epigenetically suppressed when lost in rhabdoid tumors


  • Not specified


  • Not specified
  Contacts and Locations
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Please refer to this study by its identifier: NCT01553175

Sponsors and Collaborators
Children's Oncology Group
National Cancer Institute (NCI)
Principal Investigator: David Reisman, MD, PhD University of Florida
  More Information

Responsible Party: Children's Oncology Group Identifier: NCT01553175     History of Changes
Other Study ID Numbers: AREN12B5  COG-AREN12B5  CDR0000728521  NCI-2012-00705 
Study First Received: March 10, 2012
Last Updated: September 30, 2015
Health Authority: United States: Federal Government

Keywords provided by Children's Oncology Group:
childhood atypical teratoid/rhabdoid tumor
rhabdoid tumor of the kidney

Additional relevant MeSH terms:
Central Nervous System Neoplasms
Nervous System Neoplasms
Rhabdoid Tumor
Neoplasms by Histologic Type
Neoplasms by Site
Neoplasms, Complex and Mixed
Nervous System Diseases processed this record on May 03, 2016