Clinical Trial: Gene Mutation in Samples From Young Patients With Pleuropulmonary Blastoma Syndrome at Risk for Developing Cancer

Study Status: Completed
Recruit Status: Completed
Study Type: Observational

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

Brief Summary:

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.


Detailed Summary:

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.


Sponsor: Children's Oncology Group

Current Primary Outcome: Relationship between DICER1 mutations and tumor pathogenesis in cystic nephromas and cystic partially differentiated nephroblastomas outside of families with PPB nephroblastomas

Original Primary Outcome: Same as current

Current Secondary Outcome:

Original Secondary Outcome:

Information By: Children's Oncology Group

Dates:
Date Received: May 12, 2011
Date Started: May 2011
Date Completion:
Last Updated: July 7, 2016
Last Verified: July 2016