Clinical trial · Observational
Elucidating the Genetic Basis of the Pleuropulmonary Blastoma (PPB) Familial Cancer Syndrome
NCT00565903CI-TRIAL-00064376PPBcompletedClinicalTrials.gov clinicaltrialsProvenance
- 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)
Pleuropulmonary Blastoma (PPB) is a rare lung tumor which develops in childhood. The underlying genetic factors which contribute to the development and progression of PPB are not defined. We are working to identify the genetic factors which may contribute to the development of this rare tumor.
Conditions
Conditions (10)
Free-text conditions as registered, with the CancerIndex entity they were reconciled to and the match type.
| Condition (as posted) | Mapped entity | Match | Confidence |
|---|---|---|---|
| Cystic Nephroma | Adult Cystic Nephroma | ALIAS | 0.90 |
| Embryonal Rhabdomyosarcoma of Cervix | — | UNRESOLVED | — |
| Goiter | — | UNRESOLVED | — |
| Medulloepithelioma | Central Nervous System Medulloepithelioma | ALIAS | 0.90 |
| Pineoblastoma | Pineoblastoma | ONTOLOGY_EXACT | 0.98 |
| Pituitary Tumors | Pituitary Gland Neoplasm | ALIAS | 0.90 |
| Pleuropulmonary Blastoma | Pleuropulmonary Blastoma | ONTOLOGY_EXACT | 0.98 |
| Sarcoma | Sarcoma | ONTOLOGY_EXACT | 0.98 |
| Sertoli-Leydig Cell Tumor of Ovary | Ovarian Sertoli-Leydig Cell Tumor | ALIAS | 0.90 |
Interventions
Interventions (0)
Data not yet available
No intervention recorded.
Design
Arms and outcomes
Arms (0)
[]Primary outcomes (1)
- measure
- Identify the genetic factors which contribute to the development or progression of pleuropulmonary blastoma
- timeFrame
- 10 years
Secondary outcomes (1)
- measure
- Define the clinical features of the pleuropulmonary blastoma (PPB) familial cancer syndrome.
- timeFrame
- 10 years
Eligibility
Eligibility (as posted)
- Sex
- All
- Minimum age
- 1 Day
- Maximum age
- 95 Years
Show eligibility criteria text
Inclusion Criteria: * Child or adult diagnosed with pleuropulmonary blastoma, cystic nephroma, embryonal rhabdomyosarcoma of uterine cervix, ovarian Sertoli-Leydig tumor or gynandroblastoma, pineoblastoma, pituitary blastoma, nasal chondromesenchymal hamartoma, medulloepithelioma, Wilms tumor, germline or mosaic DICER1 mutation Exclusion Criteria: * child or adult who does not fit inclusion criteria as listed above
References
Publications (14)
- RESULTSchultz KAP, Williams GM, Kamihara J, Stewart DR, Harris AK, Bauer AJ, Turner J, Shah R, Schneider K, Schneider KW, Carr AG, Harney LA, Baldinger S, Frazier AL, Orbach D, Schneider DT, Malkin D, Dehner LP, Messinger YH, Hill DA. DICER1 and Associated Conditions: Identification of At-risk Individuals and Recommended Surveillance Strategies. Clin Cancer Res. 2018 May 15;24(10):2251-2261. doi: 10.1158/1078-0432.CCR-17-3089. Epub 2018 Jan 17. PMID 29343557
- RESULTSchultz KAP, Harris AK, Finch M, Dehner LP, Brown JB, Gershenson DM, Young RH, Field A, Yu W, Turner J, Cost NG, Schneider DT, Stewart DR, Frazier AL, Messinger Y, Hill DA. DICER1-related Sertoli-Leydig cell tumor and gynandroblastoma: Clinical and genetic findings from the International Ovarian and Testicular Stromal Tumor Registry. Gynecol Oncol. 2017 Dec;147(3):521-527. doi: 10.1016/j.ygyno.2017.09.034. Epub 2017 Oct 14. PMID 29037807
- RESULTHill DA, Ivanovich J, Priest JR, Gurnett CA, Dehner LP, Desruisseau D, Jarzembowski JA, Wikenheiser-Brokamp KA, Suarez BK, Whelan AJ, Williams G, Bracamontes D, Messinger Y, Goodfellow PJ. DICER1 mutations in familial pleuropulmonary blastoma. Science. 2009 Aug 21;325(5943):965. doi: 10.1126/science.1174334. Epub 2009 Jun 25. PMID 19556464
- RESULTPugh TJ, Yu W, Yang J, Field AL, Ambrogio L, Carter SL, Cibulskis K, Giannikopoulos P, Kiezun A, Kim J, McKenna A, Nickerson E, Getz G, Hoffher S, Messinger YH, Dehner LP, Roberts CW, Rodriguez-Galindo C, Williams GM, Rossi CT, Meyerson M, Hill DA. Exome sequencing of pleuropulmonary blastoma reveals frequent biallelic loss of TP53 and two hits in DICER1 resulting in retention of 5p-derived miRNA hairpin loop sequences. Oncogene. 2014 Nov 6;33(45):5295-302. doi: 10.1038/onc.2014.150. Epub 2014 Jun 9. PMID 24909177
- RESULTSchultz KA, Harris A, Williams GM, Baldinger S, Doros L, Valusek P, Frazier AL, Dehner LP, Messinger Y, Hill DA. Judicious DICER1 testing and surveillance imaging facilitates early diagnosis and cure of pleuropulmonary blastoma. Pediatr Blood Cancer. 2014 Sep;61(9):1695-7. doi: 10.1002/pbc.25092. Epub 2014 May 13.