Sarcoma Clinical Trial
Official title:
Investigation of DICER1 in Cystic Nephroma and Cystic Partially Differentiated Nephroblastoma
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.
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.
;
Observational Model: Case-Only, Time Perspective: Retrospective
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