Clinical trial · Observational
Gene Mutation in Samples From Young Patients With Pleuropulmonary Blastoma Syndrome at Risk for Developing Cancer
Investigation of DICER1 in Cystic Nephroma and Cystic Partially Differentiated Nephroblastoma
- Source
- ClinicalTrials.gov
- Retrieved
- Sep 8, 2026
- Layer
- normalized (units and labels harmonized; values unchanged)
- Run
- ING-CLINICALTRIALS-20260908-000001
Summary
Brief summary (as posted)
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.
Conditions
Conditions (7)
Free-text conditions as registered, with the CancerIndex entity they were reconciled to and the match type.
| Condition (as posted) | Mapped entity | Match | Confidence |
|---|---|---|---|
| Brain and Central Nervous System Tumors | — | UNRESOLVED | — |
| Hereditary Wilms Tumor | Hereditary Kidney Wilms Tumor | ALIAS | 0.90 |
| Kidney Cancer | Malignant Kidney Neoplasm | CURATED_EXACT | 0.92 |
| Liver Cancer | Malignant Liver Neoplasm | CURATED_EXACT | 0.92 |
| Neuroblastoma | Neuroblastoma | ONTOLOGY_EXACT | 0.90 |
| Pleuropulmonary Blastoma | Pleuropulmonary Blastoma | ONTOLOGY_EXACT | 0.98 |
| Sarcoma | Sarcoma | ONTOLOGY_EXACT | 0.98 |
Interventions
Interventions (9)
| Intervention | Type | Mapped drug | Match |
|---|---|---|---|
| cytogenetic analysis | Genetic | — | UNRESOLVED |
| DNA analysis | Genetic | — | UNRESOLVED |
| gene expression analysis | Genetic | — | UNRESOLVED |
| gene rearrangement analysis | Genetic | — | UNRESOLVED |
| laboratory biomarker analysis | Other | — | UNRESOLVED |
| medical chart review | Other | — | UNRESOLVED |
| mutation analysis | Genetic | — | UNRESOLVED |
| polymerase chain reaction | Genetic | — | UNRESOLVED |
| polymorphism analysis |
Design
Arms and outcomes
Arms (0)
[]Primary outcomes (1)
- measure
- Relationship between DICER1 mutations and tumor pathogenesis in cystic nephromas and cystic partially differentiated nephroblastomas outside of families with PPB nephroblastomas
Eligibility
Eligibility (as posted)
- Sex
- All
- Maximum age
- 120 Years
Show eligibility criteria text
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
References
Publications (0)
Data not yet available