Gene Mutation in Samples From Young Patients With Pleuropulmonary Blastoma Syndrome at Risk for Developing Cancer

The recruitment status of this study is unknown because the information has not been verified recently.
Verified May 2011 by National Cancer Institute (NCI).
Recruitment status was  Active, not recruiting
Information provided by:
National Cancer Institute (NCI) Identifier:
First received: May 12, 2011
Last updated: May 26, 2011
Last verified: May 2011

RATIONALE: The identification of gene mutations in young patients with pleuropulmonary blastoma syndrome may allow doctors to better understand the genetic processes involved in the development of some types of cancer, and may also help doctors identify patients who are at risk for cancer.

PURPOSE: This research study studies gene mutations in samples from young patients with pleuropulmonary blastoma syndrome at risk for developing cancer.

Condition Intervention
Brain and Central Nervous System Tumors
Hereditary Wilms Tumor
Kidney Cancer
Liver Cancer
Pleuropulmonary Blastoma
Genetic: DNA analysis
Genetic: cytogenetic analysis
Genetic: gene expression analysis
Genetic: gene rearrangement analysis
Genetic: mutation analysis
Genetic: polymerase chain reaction
Genetic: polymorphism analysis
Other: laboratory biomarker analysis
Other: medical chart review

Study Type: Observational
Official Title: Investigation of DICER1 in Cystic Nephroma and Cystic Partially Differentiated Nephroblastoma

Resource links provided by NLM:

Further study details as provided by National Cancer Institute (NCI):

Primary Outcome Measures:
  • Relationship between DICER1 mutations and tumor pathogenesis in cystic nephromas and cystic partially differentiated nephroblastomas outside of families with PPB nephroblastomas [ Designated as safety issue: No ]

Estimated Enrollment: 31
Study Start Date: May 2011
Estimated Primary Completion Date: August 2011 (Final data collection date for primary outcome measure)
Detailed Description:


  • To determine if DICER1 mutations contribute to tumor pathogenesis in cystic nephromas and cystic partially differentiated nephroblastomas outside of families with pleuropulmonary blastoma (PPB) syndrome.

OUTLINE: Archived DNA samples are analyzed for DICER1 mutation by qPCR and directly sequenced using BigDye Terminator chemistry. Results are then compared against the single nucleotide polymorphism (SNP) database.


Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   No


  • Diagnosis of pleuropulmonary blastoma syndrome
  • Normal tissue samples, if available
  • Parental and sibling DNA samples, if available


  • Not specified


  • Not specified
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Please refer to this study by its identifier: NCT01353300

Sponsors and Collaborators
Children's Oncology Group
Principal Investigator: Dana A. Hill, MD Children's Research Institute
  More Information

Additional Information:
No publications provided

Responsible Party: Gregory H. Reaman, Children's Oncology Group - Group Chair Office Identifier: NCT01353300     History of Changes
Other Study ID Numbers: CDR0000700282, COG-AREN11B2
Study First Received: May 12, 2011
Last Updated: May 26, 2011
Health Authority: United States: Federal Government

Keywords provided by National Cancer Institute (NCI):
embryonal childhood rhabdomyosarcoma
cystic nephroma
childhood medulloblastoma
childhood hepatoblastoma
stromal predominant Wilms tumor
hereditary Wilms tumor
pleuropulmonary blastoma

Additional relevant MeSH terms:
Central Nervous System Neoplasms
Pulmonary Blastoma
Lung Neoplasms
Neoplasms by Histologic Type
Neoplasms by Site
Neoplasms, Complex and Mixed
Nervous System Diseases
Nervous System Neoplasms
Respiratory Tract Neoplasms
Thoracic Neoplasms processed this record on March 26, 2015