An observational study in Pleuropulmonary Blastoma, Sertoli-Leydig Cell Tumor and DICER1 Syndrome, sponsored by Children's Hospitals and Clinics of Minnesota. Recruiting at 1 site in United States. Open to participants aged 0 Minutes to 100 Years, including healthy volunteers. Per ClinicalTrials.gov, last updated 2026-10-26.
Sponsored by Children's Hospitals and Clinics of Minnesota · Observational
Children's Hospital Medical Center, Cincinnati · The Hospital for Sick Children · Huntsman Cancer Institute · University of Texas Southwestern Medical Center · Prisma Health-Midlands · Shaukat Khanum Memorial Cancer Hospital & Research Centre · Memorial Sloan Kettering Cancer Center · University of Colorado, Denver · Seattle Children's Hospital · CHU de Quebec-Universite Laval · Yale University · Sidney Kimmel Comprehensive Cancer Center at Johns Hopkins · Kaplan Medical Center · Schneider Children's Medical Center, Israel · Mayo Clinic · Children's Hospital Los Angeles · BC Cancer Foundation · Koc Healthcare Istanbul American Hospital, Marmara University Hospital
ResourcePath, LLC · Louisiana State University Health Sciences Center Shreveport · Beijing Children's Hospital · Children's Hospital of Los Angeles (CHLA) · Cincinnati Children's Hospital Medical Center (CCHMC) · The Hospital for Sick Children (SickKids) · Huntsman Cancer Institute/ University of Utah · UT Southwestern Medical Center
PPB has strong genetic implications, with a unique set of conditions in an individual or their family, occurring mostly in childhood and adolescence. The International PPB/DICER1 Registry first reported DICER1 germline loss-of-function variations in individuals with PPB and their family members. Conditions associated with DICER1 include Sertoli-Leydig cell tumor (SLCT), gynandroblastoma, ovarian sarcoma, peritoneal PPB, lung cysts, renal cysts, cystic nephroma (CN), anaplastic sarcoma of the kidney (ASK), Wilms tumor, primary DICER1-associated central nervous system (CNS) sarcoma, pineoblastoma, pituitary blastoma, multinodular goiter, thyroid carcinoma, nasal chondromesenchymal hamartoma, ciliary body medulloepithelioma (CBME), juvenile hamartomatous intestinal polyps, embryonal rhabdomyosarcoma (ERMS) and undifferentiated sarcoma. DICER1 variations may also be associated with macrocephaly and overgrowth syndrome.
The International PPB/DICER1 Registry estimates that 30-50 cases of Type I and Ir PPB and 40-60 cases of Types II and III PPB are diagnosed annually worldwide. In 2009, the International Pleuropulmonary Blastoma Registry began a prospective study to collect treatment data on individuals for whom therapy decisions were made by their treating institution.
PPB is a rare cancer of the lung presenting in early childhood, mostly commonly from birth to age \~72 months. PPB occurs within the lung or between the lung and the chest wall. There are three primary forms of PPB called Types I, II, and III PPB. PPB is related to an underlying change/mutation in a gene called DICER1 which impacts gene expression and cell growth. DICER1 mutations may also lead to the development of other tumors in children and adults.
The International PPB/DICER1 Registry offers information based on previous data from Registry participants and the medical literature and collaborative efforts with international rare tumor groups.
Retrospective and real-time central pathology review is encouraged. Therapy decisions remain at the discretion of the treating institution.
Children with Type I PPB require surgery and sometimes chemotherapy. Therapy decisions are the responsibility of the treating institution. Surgical guidelines are presented. It is unknown whether adjuvant chemotherapy improves cure rates for Type I PPB patients. Chemotherapy options include a 22-week regimen: 4 courses of vincristine, actinomycin D and cyclophosphamide (VAC) followed by 3 courses of vincristine and actinomycin D (VA).
Children with Types II and III PPB, require surgery, chemotherapy and sometimes radiation therapy. Many children with Types II or III PPB receive a single-arm multi-agent chemotherapy neo-adjuvant/adjuvant regimen of IVADo (ifosfamide, vincristine, actinomycin, doxorubicin) for 36 weeks. Second and possible 3rd look surgery may be considered for local control. Radiation therapy may be considered.
200 studies on the registry are indexed under Wilms Tumor; 25 are open to participants now.
This study's planned enrollment of 3,400 is above the median of 162 across 36 observational studies indexed under Wilms Tumor.
Browse Wilms Tumor studies →Children's Hospitals and Clinics of Minnesota is the lead sponsor of 49 studies on the registry; 2 are open to participants now.
Counted across the registry records on this site, refreshed daily.
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Exclusion criteria:
Absence of appropriate consent for Registry participation
Underlined terms in the criteria open these too. Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Before you join, the study team explains what taking part involves — its purpose, what happens, the risks and possible benefits — and answers your questions, so you can decide freely. Consent is usually recorded on a form (the informed consent form, ICF) signed by you or, where the law allows, by someone legally authorised to decide for you.
You can keep asking questions during the study, you are told of new information that matters, and you can choose to leave at any time.
Informed consent
Before you join, the study team explains what taking part involves — its purpose, what happens, the risks and possible benefits — and answers your questions, so you can decide freely. Consent is usually recorded on a form (the informed consent form, ICF) signed by you or, where the law allows, by someone legally authorised to decide for you.
You can keep asking questions during the study, you are told of new information that matters, and you can choose to leave at any time.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Type I PPB is an early manifestation of this malignant disease, cured in some cases by surgery. Surgical guidelines are presented. It is unknown whether adjuvant chemotherapy improves cure rates for individuals with Type I PPB. If the treating physicians select adjuvant chemotherapy treatment, chemotherapy options include a 22-week regimen: 4 courses of vincristine, actinomycin D and cyclophosphamide (VAC) followed by 3 courses of vincristine and actinomycin D (VA). Therapy decisions are the responsibility of the treating institution.
Types II and III PPB are aggressive sarcomas. Surgery and chemotherapy are necessary in all cases. Surgical guidelines are presented. Many children with Types II or III PPB receive a single-arm multi-agent chemotherapy neo-adjuvant/adjuvant regimen of IVADo (ifosfamide, vincristine, actinomycin, doxorubicin) for 36 weeks. Second and possible 3rd look surgery may be considered for local control. Radiation therapy may be considered. Specific therapy decisions are the responsibility of the treating institution.
Type Ir (regressed) PPB is a unique, purely cystic tumor which lacks a primitive cell component. The International PPB/DICER1 Registry will enroll and follow participants with Type Ir PPB, regardless of age.
The International PPB/DICER1 Registry for PPB, DICER1, and Associated Conditions study will enroll and follow participants who have DICER1 gene variants or conditions associated with DICER1. This could include Sertoli-Leydig cell tumor, cystic nephroma, thyroid nodules or carcinoma, intracranial sarcoma, and others.
Event-free survival
The primary endpoint for statistical analysis will be time from start treatment to an event, defined as the occurrence of progression or recurrence of PPB, occurrence of a second malignant neoplasm, or death from any cause that is at least possibly related to the original disease or treatment.
Time frame: 7 years
Overall response to chemotherapy
The investigators will assess overall response to chemotherapy among participants with radiographically measurable tumor following initial surgery or biopsy.
Time frame: 7 years
Overall survival
The investigators will assess overall survival and time to death from any cause among participants.
Time frame: 7 years
Quality of life outcomes in individuals diagnosed with PPB.
Chemotherapy and surgery may have adverse effects on the quality of life outcomes. Multiple factors may impact quality of life for participants.This study will allow the investigators to assess the quality of life outcomes in participants with DICER1-related tumors and will compare outcomes to those with more common childhood cancers.
Time frame: 7 years
Cardiac outcomes in individuals diagnosed with PPB.
Chemotherapy and surgery may have adverse effects on cardiac outcomes. This study will allow the investigators to assess the cardiac outcomes as measured by ejection fraction and shortening fraction via echocardiogram of participants with DICER1-related tumors, and compare outcomes to those with more common childhood cancers.
Time frame: 7 years
Pulmonary function testing results in individuals diagnosed with PPB
Chemotherapy and surgery may have adverse effects on pulmonary outcomes. This study will allow the investigators to assess the pulmonary outcome of participants as ascertained by pulmonary function testing (forced vital capacity (FVC), FEV1(forced expiratory volume in 1 second)/FVC) with DICER1-related tumors, and compare outcomes to those with more common childhood cancers.
Time frame: 7 years
Incidence of neoplasms in individuals with DICER1-related conditions or germline DICER1 variants. mutation.
This protocol will include individuals with germline DICER1 mutations and will calculate incidence rates of specific neoplasms in this population
Time frame: 7 years
Plan to share: No
Started Dec 2016 (actual). Primary completion is estimated for Dec 2031, 180 months after the start.
Since we started tracking on Sep 25, 2026, the dates moved once, on Oct 26, 2026: primary completion Dec 2030 → Dec 2031 and completion Dec 2035 → Dec 2036.
Earlier changes are on the record history on ClinicalTrials.gov ↗
How these figures are worked out, and which studies are left out of them.
Children's Hospital Medical Center, Cincinnati · The Hospital for Sick Children · Huntsman Cancer Institute · University of Texas Southwestern Medical Center · Prisma Health-Midlands · Shaukat Khanum Memorial Cancer Hospital & Research Centre · Memorial Sloan Kettering Cancer Center · University of Colorado, Denver · Seattle Children's Hospital · CHU de Quebec-Universite Laval · Yale University · Sidney Kimmel Comprehensive Cancer Center at Johns Hopkins · Kaplan Medical Center · Schneider Children's Medical Center, Israel · Mayo Clinic · Children's Hospital Los Angeles · BC Cancer Foundation · Koc Healthcare Istanbul American Hospital, Marmara University Hospital
ResourcePath, LLC · Louisiana State University Health Sciences Center Shreveport · Beijing Children's Hospital · Children's Hospital of Los Angeles (CHLA) · Cincinnati Children's Hospital Medical Center (CCHMC) · The Hospital for Sick Children (SickKids) · Huntsman Cancer Institute/ University of Utah · UT Southwestern Medical Center
Children's Hospital Medical Center, Cincinnati · The Hospital for Sick Children · Huntsman Cancer Institute · University of Texas Southwestern Medical Center · Prisma Health-Midlands · Shaukat Khanum Memorial Cancer Hospital & Research Centre · Memorial Sloan Kettering Cancer Center · University of Colorado, Denver · Seattle Children's Hospital · CHU de Quebec-Universite Laval · Yale University · Sidney Kimmel Comprehensive Cancer Center at Johns Hopkins · Kaplan Medical Center · Schneider Children's Medical Center, Israel · Mayo Clinic · Children's Hospital Los Angeles · BC Cancer Foundation · Koc Healthcare Istanbul American Hospital, Marmara University Hospital
ResourcePath, LLC · Louisiana State University Health Sciences Center Shreveport · Beijing Children's Hospital · Children's Hospital of Los Angeles (CHLA) · Cincinnati Children's Hospital Medical Center (CCHMC) · The Hospital for Sick Children (SickKids) · Huntsman Cancer Institute/ University of Utah · UT Southwestern Medical Center
From the registry record's own update history. This site started tracking changes on Sep 25, 2026; for anything earlier, see the record history on ClinicalTrials.gov ↗
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Children's Hospitals and Clinics of Minnesota