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

This study has been completed.

Sponsor:

Collaborator:

National Cancer Institute (NCI)

Information provided by (Responsible Party):

Children's Oncology Group

ClinicalTrials.gov Identifier:

NCT01353300

First received: May 12, 2011

Last updated: July 7, 2016

Last verified: July 2016

History of Changes

Purpose

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	Intervention
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


Study Type:	Observational
Study Design:	Observational Model: Case-Only Time Perspective: Retrospective
Official Title:	Investigation of DICER1 in Cystic Nephroma and Cystic Partially Differentiated Nephroblastoma

Resource links provided by NLM:

Genetics Home Reference related topics: DICER1 syndrome neuroblastoma

MedlinePlus related topics: Genes and Gene Therapy Wilms Tumor

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

U.S. FDA Resources

Further study details as provided by Children's Oncology Group:

Primary Outcome Measures:

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


Estimated Enrollment:	31
Study Start Date:	May 2011
Primary Completion Date:	July 2016 (Final data collection date for primary outcome measure)

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.

Eligibility


Ages Eligible for Study:	up to 120 Years (Child, Adult, Senior)
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

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its ClinicalTrials.gov identifier: NCT01353300

Sponsors and Collaborators

Children's Oncology Group

National Cancer Institute (NCI)

Investigators


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

More Information


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 )
Study First Received:	May 12, 2011
Last Updated:	July 7, 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:


Neoplasms Neuroblastoma Liver Neoplasms Kidney Neoplasms Carcinoma, Renal Cell Nervous System Neoplasms Central Nervous System Neoplasms Wilms Tumor Pulmonary Blastoma Neuroectodermal Tumors, Primitive, Peripheral Neuroectodermal Tumors, Primitive Neoplasms, Neuroepithelial Neuroectodermal Tumors Neoplasms, Germ Cell and Embryonal Neoplasms by Histologic Type	Neoplasms, Glandular and Epithelial Neoplasms, Nerve Tissue Digestive System Neoplasms Neoplasms by Site Digestive System Diseases Liver Diseases Urologic Neoplasms Urogenital Neoplasms Kidney Diseases Urologic Diseases Adenocarcinoma Carcinoma Nervous System Diseases Neoplasms, Complex and Mixed Neoplastic Syndromes, Hereditary

ClinicalTrials.gov processed this record on July 21, 2017

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