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

Children's Oncology Group

Status: Completed

Conditions: Sarcoma; Neuroblastoma; Brain and Central Nervous System Tumors; Hereditary Wilms Tumor; Kidney Cancer; Liver Cancer; Pleuropulmonary Blastoma

Treatments: Genetic: polymerase chain reaction; Genetic: gene expression analysis; Genetic: polymorphism analysis; Genetic: mutation analysis; Genetic: DNA analysis; Genetic: cytogenetic analysis; Other: medical chart review; Other: laboratory biomarker analysis; Genetic: gene rearrangement analysis

Study type: Observational

Funder types: NETWORK; NIH

Identifiers

NCT01353300

NCI-2011-02854 (Registry Identifier)

AREN11B2 (Other Identifier)

COG-AREN11B2 (Other Identifier)

Details and patient eligibility

About

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.

Full 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.

Enrollment: 31 estimated patients

Sex: All

Ages: Under 120 years old

Volunteers: No Healthy Volunteers

Inclusion and exclusion 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