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
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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.
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 |
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 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 |

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

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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 |
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

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
Principal Investigator: | Dana A. Hill, MD | Children's National Research Institute |
Responsible Party: | Children's Oncology Group |
ClinicalTrials.gov Identifier: | NCT01353300 |
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 |
embryonal childhood rhabdomyosarcoma cystic nephroma neuroblastoma childhood medulloblastoma |
childhood hepatoblastoma stromal predominant Wilms tumor hereditary Wilms tumor pleuropulmonary blastoma |
Neoplasms Neuroblastoma Nervous System Neoplasms Central Nervous System Neoplasms Wilms Tumor Pulmonary Blastoma 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 |