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

Completed

• Conditions: Neuroblastoma; Pleuropulmonary Blastoma; Sarcoma; Liver Cancer; Hereditary Wilms Tumor; Kidney Cancer; Brain and Central Nervous System Tumors

• Registration Number: NCT01353300
• Lead Sponsor: Children's Oncology Group

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 Description

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.

Study Timeline

• Study Start: 2011-05
• Study First Submitted: 2011-05-12
• Study First Submitted QC: 2011-05-12
• Study First Posted: 2011-05-13
• Status Verified: 2016-07
• Primary Completion: 2016-07
• Last Update Submitted: 2016-07-07
• Last Update Posted: 2016-07-11

Recruitment & Eligibility

• Status: COMPLETED
• Sex: All
• Target Recruitment: 31

Inclusion Criteria

Not provided

Exclusion Criteria

Not provided

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
Relationship between DICER1 mutations and tumor pathogenesis in cystic nephromas and cystic partially differentiated nephroblastomas outside of families with PPB nephroblastomas