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

This study has been completed.
National Cancer Institute (NCI)
Information provided by (Responsible Party):
Children's Oncology Group Identifier:
First received: May 12, 2011
Last updated: July 7, 2016
Last verified: July 2016

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
Study Design: Observational Model: Case-Only
Time Perspective: Retrospective
Official Title: Investigation of DICER1 in Cystic Nephroma and Cystic Partially Differentiated Nephroblastoma

Resource links provided by NLM:

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

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

Estimated Enrollment: 31
Study Start Date: May 2011
Primary Completion Date: July 2016 (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.


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 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
  Contacts and Locations
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Please refer to this study by its identifier: NCT01353300

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

Responsible Party: Children's Oncology Group Identifier: NCT01353300     History of Changes
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 )
Study First Received: May 12, 2011
Last Updated: July 7, 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:
Wilms Tumor
Liver Neoplasms
Kidney Neoplasms
Carcinoma, Renal Cell
Nervous System Neoplasms
Central Nervous System Neoplasms
Pulmonary Blastoma
Neuroectodermal Tumors, Primitive, Peripheral
Neuroectodermal Tumors, Primitive
Neoplasms, Neuroepithelial
Neuroectodermal Tumors
Neoplasms, Germ Cell and Embryonal
Neoplasms by Histologic Type
Neoplasms, Glandular and Epithelial
Neoplasms, Nerve Tissue
Digestive System Neoplasms
Neoplasms by Site
Digestive System Diseases
Liver Diseases
Urologic Neoplasms
Urogenital Neoplasms
Kidney Diseases
Urologic Diseases
Nervous System Diseases
Neoplasms, Complex and Mixed
Neoplastic Syndromes, Hereditary processed this record on May 25, 2017