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Completed

NCT Number: NCT01353300

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

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.

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Key information

Conditions

Brain and Central Nervous System Tumors Central Nervous System Neoplasms Digestive System Diseases Digestive System Neoplasms Female Urogenital Diseases Female Urogenital Diseases and Pregnancy Complications Glioma Hepatoblastoma Hereditary Wilms Tumor Kidney Cancer Kidney Diseases Kidney Neoplasms Liver Cancer Liver Diseases Liver Neoplasms Male Urogenital Diseases Medulloblastoma Neoplasms Neoplasms by Histologic Type Neoplasms by Site Neoplasms, Complex and Mixed Neoplasms, Connective and Soft Tissue Neoplasms, Germ Cell and Embryonal Neoplasms, Glandular and Epithelial Neoplasms, Nerve Tissue Neoplasms, Neuroepithelial Nervous System Diseases Nervous System Neoplasms Neuroblastoma Neuroectodermal Tumors Neuroectodermal Tumors, Primitive Neuroectodermal Tumors, Primitive, Peripheral Pleuropulmonary Blastoma Sarcoma Urogenital Diseases Urogenital Neoplasms Urologic Diseases Urologic Neoplasms

Age range

Up to 120 year

Sex eligibility

All sexes

Study type

Observational

About this study

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.

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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

Treatment and study plan

DNA analysis

Genetic

cytogenetic analysis

Genetic

gene expression analysis

Genetic

gene rearrangement analysis

Genetic

mutation analysis

Genetic

polymerase chain reaction

Genetic

polymorphism analysis

Genetic

laboratory biomarker analysis

Other

medical chart review

Other

Primary outcomes

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

Sponsors and collaborators

Lead sponsor

Children's Oncology Group

Network

Collaborators

  • National Cancer Institute (NCI)

Registry information

Official study title

Investigation of DICER1 in Cystic Nephroma and Cystic Partially Differentiated Nephroblastoma

Important dates

Study start
2011
Primary completion
2016
First posted
May 13, 2011
Registry last updated
Jul 11, 2016

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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