NCT01353300

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

Investigation of DICER1 in Cystic Nephroma and Cystic Partially Differentiated Nephroblastoma

• Status: Completed
• Phase: —
• Study type: Observational
• Enrollment: 31 (estimated)
• Sponsor: Children's Oncology Group · Network
• Sex: All
• Age: 120 Years
• Healthy volunteers: Not accepted

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.

Conditions

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

Interventions

Type	Name	Description
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

Timeline

• Start date: 2011-05-01
• Primary completion: 2016-07-01
• First posted: 2011-05-13
• Last updated: 2016-07-11