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

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ClinicalTrials.gov Identifier: NCT01353300

Recruitment Status : Completed

First Posted : May 13, 2011

Last Update Posted : July 11, 2016

Sponsor:

Collaborator:

National Cancer Institute (NCI)

Information provided by (Responsible Party):

Children's Oncology Group

Study Description

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.

Condition or disease	Intervention/treatment
Brain and Central Nervous System Tumors Hereditary Wilms Tumor Kidney Cancer Liver Cancer Neuroblastoma Pleuropulmonary Blastoma Sarcoma	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

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 Design

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Study Type :	Observational
Estimated Enrollment :	31 participants
Observational Model:	Case-Only
Time Perspective:	Retrospective
Official Title:	Investigation of DICER1 in Cystic Nephroma and Cystic Partially Differentiated Nephroblastoma
Study Start Date :	May 2011
Actual Primary Completion Date :	July 2016

Resource links provided by the National Library of Medicine

Genetics Home Reference related topics: DICER1 syndrome Wilms tumor Neuroblastoma

MedlinePlus related topics: Genes and Gene Therapy Wilms Tumor

Genetic and Rare Diseases Information Center resources: Soft Tissue Sarcoma Renal Cell Carcinoma Neuroblastoma Hepatoblastoma Medulloblastoma Medulloblastoma, Childhood Wilms' Tumor Pleuropulmonary Blastoma Neuroepithelioma

U.S. FDA Resources

Groups and Cohorts

Outcome Measures

Primary Outcome Measures :

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

Eligibility Criteria

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Ages Eligible for Study:	up to 120 Years (Child, Adult, Older Adult)
Sexes Eligible for Study:	All
Accepts Healthy Volunteers:	No
Sampling Method:	Non-Probability Sample

Study Population

Patients with a diagnosis of pleuropulmonary blastoma syndrome.

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

Contacts and Locations

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT01353300

Sponsors and Collaborators

Children's Oncology Group

National Cancer Institute (NCI)

Investigators

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Principal Investigator:	Dana A. Hill, MD	Children's Research Institute

More Information

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Responsible Party:	Children's Oncology Group
ClinicalTrials.gov Identifier:	NCT01353300 History of Changes
Other Study ID Numbers:	AREN11B2 COG-AREN11B2 ( Other Identifier: Children's Oncology Group ) NCI-2011-02854 ( Registry Identifier: CTRP (Clinical Trial Reporting Program) ) AREN11B2 ( Other Identifier: Children's Oncology Group )
First Posted:	May 13, 2011 Key Record Dates
Last Update Posted:	July 11, 2016
Last Verified:	July 2016

Keywords provided by Children's Oncology Group:


embryonal childhood rhabdomyosarcoma cystic nephroma neuroblastoma childhood medulloblastoma	childhood hepatoblastoma stromal predominant Wilms tumor hereditary Wilms tumor pleuropulmonary blastoma

Additional relevant MeSH terms:

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Neuroblastoma Nervous System Neoplasms Central Nervous System Neoplasms Wilms Tumor Pulmonary Blastoma Neoplasms Neoplasms by Histologic Type Neuroectodermal Tumors, Primitive, Peripheral Neuroectodermal Tumors, Primitive Neoplasms, Neuroepithelial Neuroectodermal Tumors Neoplasms, Germ Cell and Embryonal Neoplasms, Glandular and Epithelial Neoplasms, Nerve Tissue	Neoplasms by Site Kidney Neoplasms Urologic Neoplasms Urogenital Neoplasms Kidney Diseases Urologic Diseases Nervous System Diseases Neoplasms, Complex and Mixed Neoplastic Syndromes, Hereditary Genetic Diseases, Inborn Lung Neoplasms Respiratory Tract Neoplasms Thoracic Neoplasms

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