Gene Mutation in Samples From Young Patients With Pleuropulmonary Blastoma Syndrome at Risk for Developing Cancer
|ClinicalTrials.gov Identifier: NCT01353300|
Recruitment Status : Completed
First Posted : May 13, 2011
Last Update Posted : July 11, 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 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|
- 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.
|Study Type :||Observational|
|Estimated Enrollment :||31 participants|
|Official Title:||Investigation of DICER1 in Cystic Nephroma and Cystic Partially Differentiated Nephroblastoma|
|Study Start Date :||May 2011|
|Primary Completion Date :||July 2016|
- Relationship between DICER1 mutations and tumor pathogenesis in cystic nephromas and cystic partially differentiated nephroblastomas outside of families with PPB nephroblastomas
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT01353300
|Principal Investigator:||Dana A. Hill, MD||Children's Research Institute|