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

NCT01353300 — Completed, 31 participants, Children's Oncology Group

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Investigation of DICER1 in Cystic Nephroma and Cystic Partially Differentiated Nephroblastoma

Registry	NCT01353300
Status	Completed
Study type	Observational
Enrollment	31 (Estimated)
Sponsor	Children's Oncology Group (Network); collaborators: National Cancer Institute (NCI)
Conditions	Brain and Central Nervous System Tumors, Hereditary Wilms Tumor, Kidney Cancer, Liver Cancer, Neuroblastoma, Pleuropulmonary Blastoma, Sarcoma
Interventions	DNA analysis, cytogenetic analysis, gene expression analysis, gene rearrangement analysis, mutation analysis, polymerase chain reaction, polymorphism analysis, laboratory biomarker analysis, medical chart review (Genetic, other)
Dates	start 2011-05-01, primary completion 2016-07-01, first posted 2011-05-13, last updated 2016-07-11

-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.

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+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.

+Arms and interventions

DNA analysis (Genetic)
cytogenetic analysis (Genetic)
gene expression analysis (Genetic)
gene rearrangement analysis (Genetic)
mutation analysis (Genetic)
polymerase chain reaction (Genetic)
polymorphism analysis (Genetic)
laboratory biomarker analysis (Other)
medical chart review (Other)

+Outcome measures

Primary outcomes

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

+Eligibility

Sex: All, ages: any to 120 Years

DISEASE CHARACTERISTICS:

* Diagnosis of pleuropulmonary blastoma syndrome
* Normal tissue samples, if available
* Parental and sibling DNA samples, if available

PATIENT CHARACTERISTICS:

* Not specified

PRIOR CONCURRENT THERAPY:

* Not specified

+Investigators

Dana A. Hill, MD, Principal investigator, Children's National Research Institute