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

NCT ID: NCT01353300

Last Updated: 2016-07-11

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

COMPLETED

Total Enrollment

31 participants

Study Classification

OBSERVATIONAL

Study Start Date

2011-05-31

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.

Conditions

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

Study Design

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Observational Model Type

CASE_ONLY

Study Time Perspective

RETROSPECTIVE

Interventions

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DNA analysis

Intervention Type GENETIC

cytogenetic analysis

Intervention Type GENETIC

gene expression analysis

Intervention Type GENETIC

gene rearrangement analysis

Intervention Type GENETIC

mutation analysis

Intervention Type GENETIC

polymerase chain reaction

Intervention Type GENETIC

polymorphism analysis

Intervention Type GENETIC

laboratory biomarker analysis

Intervention Type OTHER

medical chart review

Intervention Type OTHER

Eligibility Criteria

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Inclusion Criteria

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
Maximum Eligible Age

120 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

No

Sponsors

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National Cancer Institute (NCI)

NIH

Sponsor Role collaborator

Children's Oncology Group

NETWORK

Sponsor Role lead

Responsible Party

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Responsibility Role SPONSOR

Principal Investigators

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Dana A. Hill, MD

Role: PRINCIPAL_INVESTIGATOR

Children's National Research Institute

Other Identifiers

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COG-AREN11B2

Identifier Type: OTHER

Identifier Source: secondary_id

NCI-2011-02854

Identifier Type: REGISTRY

Identifier Source: secondary_id

AREN11B2

Identifier Type: OTHER

Identifier Source: secondary_id

AREN11B2

Identifier Type: -

Identifier Source: org_study_id

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