Gene Mutation in Samples From Young Patients With Pleuropulmonary Blastoma Syndrome at Risk for Developing Cancer
NCT ID: NCT01353300
Last Updated: 2016-07-11
Study Results
The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.
Basic Information
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COMPLETED
31 participants
OBSERVATIONAL
2011-05-31
Brief Summary
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PURPOSE: This research study studies gene mutations in samples from young patients with pleuropulmonary blastoma syndrome at risk for developing cancer.
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Detailed Description
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* 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.
Conditions
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Study Design
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CASE_ONLY
RETROSPECTIVE
Interventions
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DNA analysis
cytogenetic analysis
gene expression analysis
gene rearrangement analysis
mutation analysis
polymerase chain reaction
polymorphism analysis
laboratory biomarker analysis
medical chart review
Eligibility Criteria
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Inclusion Criteria
* 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
120 Years
ALL
No
Sponsors
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National Cancer Institute (NCI)
NIH
Children's Oncology Group
NETWORK
Responsible Party
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Principal Investigators
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Dana A. Hill, MD
Role: PRINCIPAL_INVESTIGATOR
Children's National Research Institute
Other Identifiers
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COG-AREN11B2
Identifier Type: OTHER
Identifier Source: secondary_id
NCI-2011-02854
Identifier Type: REGISTRY
Identifier Source: secondary_id
AREN11B2
Identifier Type: OTHER
Identifier Source: secondary_id
AREN11B2
Identifier Type: -
Identifier Source: org_study_id
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