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RecruitingObservational

International Pleuropulmonary Blastoma/DICER1 Registry (for PPB, DICER1 and Associated Conditions)

NCT ID: NCT03382158Sponsor: Children's Hospitals and Clinics of MinnesotaLast updated: 2025-01-30

Summary

Pleuropulmonary blastoma (PPB) is a rare malignant neoplasm of the lung presenting in early childhood. Type I PPB is a purely cystic lesion, Type II is a partially cystic, partially solid tumor, Type III is a completely solid tumor. Treatment of children with PPB is at the discretion of the treating institution. This study builds off of the 2009 study and will also seek to enroll individuals with DICER1-associated conditions, some of whom may present only with the DICER1 gene mutation, which will help the Registry understand how these tumors and conditions develop, their clinical course and the most effective treatments.

Detailed description

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.

Arms & interventions

Outcome measures

Primary

  • 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

Secondary

  • Overall response to chemotherapy

    Time frame: 7 years

  • Overall survival

    Time frame: 7 years

  • Quality of life outcomes in individuals diagnosed with PPB.

    Time frame: 7 years

  • Cardiac outcomes in individuals diagnosed with PPB.

    Time frame: 7 years

  • Pulmonary function testing results in individuals diagnosed with PPB

    Time frame: 7 years

  • Incidence of neoplasms in individuals with DICER1-related conditions or germline DICER1 variants. mutation.

    Time frame: 7 years

Eligibility criteria

Sex: AllAge: 0 Minutes to 100 YearsHealthy volunteers: Yes
Inclusion Criteria: 1. Known or suspected PPB or related thoracic tumor 2. Known or suspected sex-cord stromal tumor including Sertoli-Leydig cell tumor and gynandroblastoma (males or females) 3. Other known or suspected DICER1-related condition including ovarian sarcoma, cystic nephroma, renal sarcoma, pineoblastoma, pituitary blastoma, nasal chondromesenchymal hamartoma, ciliary body medulloepithelioma and others 4. Individuals with known or suspected DICER1 pathogenic variation regardless of whether they have an established DICER1-associated condition 5. Informed consent by patient/ or parent/guardian (also, where appropriate: assent and HIPAA consent) Exclusion criteria: Absence of appropriate consent for Registry participation

Study locations (1)

Children's Minnesota

Minneapolis, Minnesota, 55404

Recruiting
Paige HR Mallinger, MS · Contact
612-813-7115paige.mallinger@childrensmn.org
Anne K Harris, MPH · Contact
6128137121anne.harris@childrensmn.org
Kris Ann P Schultz, MD · Principal Investigator

References

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