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

Study Overview
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Brief Summary
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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
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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.

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

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

Intervention / Treatment
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* 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


Participation Criteria
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Eligibility Criteria
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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

Ages Eligible for Study
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Maximum Age: 120 Years

Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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No

Study Plan
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How is the study designed?
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Arms and Interventions

| Intervention/Treatment |
| --- |
|Genetic: DNA analysis|nan|
|Genetic: cytogenetic analysis|nan|
|Genetic: gene expression analysis|nan|
|Genetic: gene rearrangement analysis|nan|
|Genetic: mutation analysis|nan|
|Genetic: polymerase chain reaction|nan|
|Genetic: polymorphism analysis|nan|
|Other: laboratory biomarker analysis|nan|
|Other: medical chart review|nan|

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Relationship between DICER1 mutations and tumor pathogenesis in cystic nephromas and cystic partially differentiated nephroblastomas outside of families with PPB nephroblastomas |  |  | 

 Terms related to the study
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Keywords Provided by Centre Hospitalier Valida
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embryonal childhood rhabdomyosarcoma, cystic nephroma, neuroblastoma, childhood medulloblastoma, childhood hepatoblastoma, stromal predominant Wilms tumor, hereditary Wilms tumor, pleuropulmonary blastoma