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| ID | Type | Description | Link |
|---|---|---|---|
| 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 |
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| Name | Class |
|---|---|
| National Cancer Institute (NCI) | NIH |
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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.
OBJECTIVES:
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.
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| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| DNA analysis | Genetic | |||
| cytogenetic analysis | Genetic | |||
| gene expression analysis | Genetic | |||
| gene rearrangement analysis | Genetic | |||
| mutation analysis | Genetic | |||
| polymerase chain reaction | Genetic | |||
| polymorphism analysis | Genetic |
| Measure | Description | Time Frame |
|---|---|---|
| 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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DISEASE CHARACTERISTICS:
PATIENT CHARACTERISTICS:
PRIOR CONCURRENT THERAPY:
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Patients with a diagnosis of pleuropulmonary blastoma syndrome.
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| Name | Affiliation | Role |
|---|---|---|
| Dana A. Hill, MD | Children's National Research Institute | Principal Investigator |
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| laboratory biomarker analysis | Other |
| medical chart review | Other |
| ID | Term |
|---|---|
| D016543 | Central Nervous System Neoplasms |
| D007680 | Kidney Neoplasms |
| D008113 | Liver Neoplasms |
| D009447 | Neuroblastoma |
| C537516 | Pleuropulmonary blastoma |
| D012509 | Sarcoma |
| D008527 | Medulloblastoma |
| D018197 | Hepatoblastoma |
| ID | Term |
|---|---|
| D009423 | Nervous System Neoplasms |
| D009371 | Neoplasms by Site |
| D009369 | Neoplasms |
| D009422 | Nervous System Diseases |
| D014571 | Urologic Neoplasms |
| D014565 | Urogenital Neoplasms |
| D052776 | Female Urogenital Diseases |
| D005261 | Female Urogenital Diseases and Pregnancy Complications |
| D000091642 | Urogenital Diseases |
| D007674 | Kidney Diseases |
| D014570 | Urologic Diseases |
| D052801 | Male Urogenital Diseases |
| D004067 | Digestive System Neoplasms |
| D004066 | Digestive System Diseases |
| D008107 | Liver Diseases |
| D018241 | Neuroectodermal Tumors, Primitive, Peripheral |
| D018242 | Neuroectodermal Tumors, Primitive |
| D018302 | Neoplasms, Neuroepithelial |
| D017599 | Neuroectodermal Tumors |
| D009373 | Neoplasms, Germ Cell and Embryonal |
| D009370 | Neoplasms by Histologic Type |
| D009375 | Neoplasms, Glandular and Epithelial |
| D009380 | Neoplasms, Nerve Tissue |
| D018204 | Neoplasms, Connective and Soft Tissue |
| D005910 | Glioma |
| D018193 | Neoplasms, Complex and Mixed |
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| ID | Term |
|---|---|
| D020732 | Cytogenetic Analysis |
| D020869 | Gene Expression Profiling |
| D015321 | Gene Rearrangement |
| D016133 | Polymerase Chain Reaction |
| D054458 | Amplified Fragment Length Polymorphism Analysis |
| ID | Term |
|---|---|
| D003584 | Cytological Techniques |
| D019411 | Clinical Laboratory Techniques |
| D019937 | Diagnostic Techniques and Procedures |
| D003933 | Diagnosis |
| D008919 | Investigative Techniques |
| D005821 | Genetic Techniques |
| D055614 | Genetic Phenomena |
| D021141 | Nucleic Acid Amplification Techniques |
| D016172 | DNA Fingerprinting |
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