Gene Mutation in Samples From Young Patients With Pleuropulmonary Blastoma Syndrome at Risk for Developing Cancer
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.
Brain and Central Nervous System Tumors
Hereditary Wilms Tumor
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 Design:||Observational Model: Case-Only
Time Perspective: Retrospective
|Official Title:||Investigation of DICER1 in Cystic Nephroma and Cystic Partially Differentiated Nephroblastoma|
- 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 ]
|Study Start Date:||May 2011|
|Primary Completion Date:||July 2016 (Final data collection date for primary outcome measure)|
- 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.
Please refer to this study by its ClinicalTrials.gov identifier: NCT01353300
|Principal Investigator:||Dana A. Hill, MD||Children's Research Institute|