Studying Gene Expression in Samples From Patients With Rhabdoid Tumors

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details. Identifier: NCT01553175
Recruitment Status : Completed
First Posted : March 14, 2012
Last Update Posted : July 14, 2016
National Cancer Institute (NCI)
Information provided by (Responsible Party):
Children's Oncology Group

Brief Summary:

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 or disease Intervention/treatment
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

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.

Study Type : Observational
Estimated Enrollment : 25 participants
Observational Model: Case-Only
Time Perspective: Retrospective
Official Title: Determination of the Frequency of BRG1 and BRM Loss in Rhabdoid Tumors
Study Start Date : March 2012
Actual Primary Completion Date : July 2016

Resource links provided by the National Library of Medicine

U.S. FDA Resources

Primary Outcome Measures :
  1. Absence or presence BRG1 and BRM expression in rhabdoid tumors
  2. Mechanism of suppression of BRG1 and BRM genes

Information from the National Library of Medicine

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Ages Eligible for Study:   up to 120 Years   (Child, Adult, Senior)
Sexes Eligible for Study:   All
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

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): NCT01553175

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

Responsible Party: Children's Oncology Group Identifier: NCT01553175     History of Changes
Other Study ID Numbers: AREN12B5
COG-AREN12B5 ( Other Identifier: Children's Oncology Group )
CDR0000728521 ( Other Identifier: Clinical )
NCI-2012-00705 ( Registry Identifier: CTRP (Clinical Trial Reporting Program) )
First Posted: March 14, 2012    Key Record Dates
Last Update Posted: July 14, 2016
Last Verified: July 2016

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

Additional relevant MeSH terms:
Kidney Neoplasms
Carcinoma, Renal Cell
Nervous System Neoplasms
Central Nervous System Neoplasms
Rhabdoid Tumor
Urologic Neoplasms
Urogenital Neoplasms
Neoplasms by Site
Kidney Diseases
Urologic Diseases
Neoplasms, Glandular and Epithelial
Neoplasms by Histologic Type
Nervous System Diseases
Neoplasms, Complex and Mixed