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Gene Mutation in Samples From Young Patients With Pleuropulmonary Blastoma Syndrome at Risk for Developing Cancer
This study has been completed.
Sponsor:
Children's Oncology Group
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
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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:
Genetic and Rare Diseases Information Center resources:
Soft Tissue Sarcoma
Neuroblastoma
Renal Cell Carcinoma
Wilms' Tumor
Pleuropulmonary Blastoma
Hepatoblastoma
Medulloblastoma
Perlman Syndrome
Medulloblastoma, Childhood
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) |
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
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Please refer to this study by its ClinicalTrials.gov identifier: NCT01353300
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 Nervous System Neoplasms Central Nervous System Neoplasms Wilms Tumor Kidney Neoplasms Carcinoma, Renal Cell 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 Nervous System Diseases Neoplasms, Complex and Mixed Urologic Neoplasms Urogenital Neoplasms Neoplastic Syndromes, Hereditary Kidney Diseases Urologic Diseases Genetic Diseases, Inborn Adenocarcinoma |
ClinicalTrials.gov processed this record on June 26, 2017