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

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: NCT01353300
Recruitment Status : Completed
First Posted : May 13, 2011
Last Update Posted : July 11, 2016
National Cancer Institute (NCI)
Information provided by (Responsible Party):
Children's Oncology Group

Brief Summary:

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 or disease Intervention/treatment
Brain and Central Nervous System Tumors Hereditary Wilms Tumor Kidney Cancer Liver Cancer Neuroblastoma Pleuropulmonary Blastoma Sarcoma 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

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.

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Study Type : Observational
Estimated Enrollment : 31 participants
Observational Model: Case-Only
Time Perspective: Retrospective
Official Title: Investigation of DICER1 in Cystic Nephroma and Cystic Partially Differentiated Nephroblastoma
Study Start Date : May 2011
Actual Primary Completion Date : July 2016

Primary Outcome Measures :
  1. Relationship between DICER1 mutations and tumor pathogenesis in cystic nephromas and cystic partially differentiated nephroblastomas outside of families with PPB nephroblastomas

Information from the National Library of Medicine

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Ages Eligible for Study:   up to 120 Years   (Child, Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
Patients with a diagnosis of pleuropulmonary blastoma syndrome.


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


  • 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): NCT01353300

Sponsors and Collaborators
Children's Oncology Group
National Cancer Institute (NCI)
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Principal Investigator: Dana A. Hill, MD Children's National Research Institute
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Responsible Party: Children's Oncology Group Identifier: NCT01353300    
Other Study ID Numbers: AREN11B2
COG-AREN11B2 ( Other Identifier: Children's Oncology Group )
NCI-2011-02854 ( Registry Identifier: CTRP (Clinical Trial Reporting Program) )
AREN11B2 ( Other Identifier: Children's Oncology Group )
First Posted: May 13, 2011    Key Record Dates
Last Update Posted: July 11, 2016
Last Verified: July 2016
Keywords provided by Children's Oncology Group:
embryonal childhood rhabdomyosarcoma
cystic nephroma
childhood medulloblastoma
childhood hepatoblastoma
stromal predominant Wilms tumor
hereditary Wilms tumor
pleuropulmonary blastoma
Additional relevant MeSH terms:
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Nervous System Neoplasms
Central Nervous System Neoplasms
Wilms Tumor
Pulmonary Blastoma
Neoplasms by Histologic Type
Neuroectodermal Tumors, Primitive, Peripheral
Neuroectodermal Tumors, Primitive
Neoplasms, Neuroepithelial
Neuroectodermal Tumors
Neoplasms, Germ Cell and Embryonal
Neoplasms, Glandular and Epithelial
Neoplasms, Nerve Tissue
Neoplasms by Site
Kidney Neoplasms
Urologic Neoplasms
Urogenital Neoplasms
Kidney Diseases
Urologic Diseases
Nervous System Diseases
Neoplasms, Complex and Mixed
Neoplastic Syndromes, Hereditary
Genetic Diseases, Inborn
Lung Neoplasms
Respiratory Tract Neoplasms
Thoracic Neoplasms