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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:
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
  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:


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 [ Designated as safety issue: No ]

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)
Genders Eligible for Study:   Both
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  NCI-2011-02854  AREN11B2 
Study First Received: May 12, 2011
Last Updated: July 7, 2016
Health Authority: United States: Federal Government

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 September 27, 2016