Clinical trial · Observational

International PPB/DICER1 Registry

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

NCT03382158CI-TRIAL-00085332recruitingClinicalTrials.gov clinicaltrialsPublishedExplore in graph →

Summary

Brief summary (as posted)

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.

Conditions

Conditions (19)

Free-text conditions as registered, with the CancerIndex entity they were reconciled to and the match type.

Condition (as posted)	Mapped entity	Match	Confidence
Ciliary Body Medulloepithelioma	Ciliary Body Medulloepithelioma	ONTOLOGY_EXACT	0.98
Cystic Nephroma	Adult Cystic Nephroma	ALIAS	0.90
DICER1 Syndrome	—	UNRESOLVED	—
Embryonal Rhabdomyosarcoma	Embryonal Rhabdomyosarcoma	ONTOLOGY_EXACT	0.90
Embryonal Rhabdomyosarcoma of Cervix	—	UNRESOLVED	—
Embryonal Rhabdomyosarcoma of Uterus (Diagnosis)	—	UNRESOLVED	—
Embryonal Rhabdomyosarcoma of Vagina (Diagnosis)	—	UNRESOLVED	—
Gynandroblastoma	Ovarian Gynandroblastoma	ALIAS	0.90
Nasal Chondromesenchymal Hamartoma	—	UNRESOLVED	—

Interventions

Interventions (0)

Data not yet available

No intervention recorded.

Design

Arms and outcomes

Arms (4)

label
Type I PPB
description
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.
label
Types II and III PPB
description
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.
label
Type Ir PPB
description
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.

Eligibility

Eligibility (as posted)

Sex: All
Minimum age: 0 Minutes
Maximum age: 100 Years

Show eligibility criteria text

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

References

Publications (33)

BACKGROUNDVasta LM, McMaster ML, Harney LA, Ling A, Kim J, Harris AK, Carr AG, Damrauer SM, Rader DJ, Kember RL, Kanetsky PA, Nathanson KL, Pyle LC, Greene MH, Schultz KA, Stewart DR; Regeneron Genetics Center (RGC) Research Team. Lack of pathogenic germline DICER1 variants in males with testicular germ-cell tumors. Cancer Genet. 2020 Oct;248-249:49-56. doi: 10.1016/j.cancergen.2020.10.002. Epub 2020 Oct 24. PMID 33158809
BACKGROUNDBisogno G, Sarnacki S, Stachowicz-Stencel T, Minard Colin V, Ferrari A, Godzinski J, Gauthier Villars M, Bien E, Hameury F, Helfre S, Schneider DT, Reguerre Y, Lopez Almaraz R, Janic D, Cesen M, Kolenova A, Rascon J, Martinova K, Cosnarovici R, Pourtsidis A, Ben Ami T, Roganovic J, Koscielniak E, Schultz KAP, Brecht IB, Orbach D. Pleuropulmonary blastoma in children and adolescents: The EXPeRT/PARTNER diagnostic and therapeutic recommendations. Pediatr Blood Cancer. 2021 Jun;68 Suppl 4(Suppl 4):e29045. doi: 10.1002/pbc.29045. Epub 2021 Apr 7. PMID 33826235
BACKGROUNDSchneider DT, Orbach D, Ben-Ami T, Bien E, Bisogno G, Brecht IB, Cecchetto G, Ferrari A, Godzinski J, Janic D, Lopez Almaraz R, Pourtsidis A, Roganovic J, Schultz KAP, Stachowicz-Stencel T, Fresneau B. Consensus recommendations from the EXPeRT/PARTNER groups for the diagnosis and therapy of sex cord stromal tumors in children and adolescents. Pediatr Blood Cancer. 2021 Jun;68 Suppl 4:e29017. doi: 10.1002/pbc.29017. Epub 2021 Mar 24. PMID 33760357
BACKGROUNDFerguson MJ, Ivanovich J, Stansell P, Vik TA, Helvie AE, Schmitt MR, Schultz KA, Dehner LP, Renbarger JL, Marshall MS. Previously unreported somatic variants in two patients with pleuropulmonary blastoma with metastatic brain recurrence. Pediatr Blood Cancer. 2021 May;68(5):e28825. doi: 10.1002/pbc.28825. Epub 2020 Nov 30. No abstract available. PMID 33258270
BACKGROUNDSchneider KW, Cost NG, Schultz KAP, Svihovec S, Suttman A. Germline predisposition to genitourinary rhabdomyosarcoma. Transl Androl Urol. 2020 Oct;9(5):2430-2440. doi: 10.21037/tau-20-76. PMID 33209717

Registry

Dates and enrollment