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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
Sponsor:
Collaborator:
National Cancer Institute (NCI)
Information provided by:
National Cancer Institute (NCI)
ClinicalTrials.gov Identifier:
NCT01353300
First received: May 12, 2011
Last updated: May 26, 2011
Last verified: May 2011
History of Changes
  Purpose

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
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

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

Resource links provided by NLM:

U.S. FDA Resources

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:

OBJECTIVES:

  • 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.

  Eligibility

Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   No
Criteria

DISEASE CHARACTERISTICS:

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

PATIENT CHARACTERISTICS:

  • Not specified

PRIOR CONCURRENT THERAPY:

  • Not specified
  Contacts and Locations
Please refer to this study by its ClinicalTrials.gov identifier: NCT01353300

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

Additional Information:
Clinical trial summary from the National Cancer Institute's PDQ® database  This link exits the ClinicalTrials.gov site

No publications provided

Responsible Party: Gregory H. Reaman, Children's Oncology Group - Group Chair Office
ClinicalTrials.gov 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
neuroblastoma
childhood medulloblastoma
 childhood hepatoblastoma
stromal predominant Wilms tumor
hereditary Wilms tumor
pleuropulmonary blastoma

Additional relevant MeSH terms:
Carcinoma, Renal Cell
Kidney Neoplasms
Liver Neoplasms
Wilms Tumor
Nervous System Neoplasms
Neuroblastoma
Central Nervous System Neoplasms
Sarcoma
Pulmonary Blastoma
Adenocarcinoma
Carcinoma
Neoplasms, Glandular and Epithelial
Neoplasms by Histologic Type
Neoplasms
Urologic Neoplasms
 Urogenital Neoplasms
Neoplasms by Site
Kidney Diseases
Urologic Diseases
Digestive System Neoplasms
Digestive System Diseases
Liver Diseases
Neoplasms, Complex and Mixed
Neoplastic Syndromes, Hereditary
Genetic Diseases, Inborn
Nervous System Diseases
Neuroectodermal Tumors, Primitive, Peripheral
Neuroectodermal Tumors, Primitive
Neoplasms, Neuroepithelial
Neuroectodermal Tumors

ClinicalTrials.gov processed this record on May 23, 2013