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Dicer1-Related Pleuropulmonary Blastoma Cancer Predisposition Syndrome: A Natural History Study


N/A
N/A
N/A
Open (Enrolling)
Both
Pleuropulmonary Blastoma, Cystic Nephroma, Ovarian Sertoli-Leydig Cell Tumors, Ocular Medulloepithelioma, Nasal Chondromesenchymal Hamartoma

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Trial Information

Dicer1-Related Pleuropulmonary Blastoma Cancer Predisposition Syndrome: A Natural History Study


Background:

In 2009, Hill and colleagues identified heterozygous germline mutations in DICER1 in
patients with familial pleuropulmonary blastoma (PPB) 1. This disorder represents the first
reported cancer predisposition syndrome that is due to altered microRNA biogenesis.

Primary Objectives:

1. To establish a cohort of patients with PPB and/or specific neoplasms of the PPB
spectrum (cystic nephroma, nasal chondromesenchymal hamartoma, ovarian Sertoli-Leydig
cell tumors, ocular medulloepithelioma, others to be defined), in order to determine
the frequency of DICER1 germline mutations in these patients and their family members.

2. To characterize the clinical phenotype of, and study the incident and prevalent cancer
rates in, these patients and their family members.

3. To identify differences between patients with a mutation in DICER1 who do develop
cancer and those who do not develop cancer.

4. To develop evidence-based management guidelines for PPB patients and their family.

5. To evaluate various parameters related to psychosocial and behavioral issues resulting
from being a member of a family at increased risk of PPB.

6. Create a biospecimen repository of carefully-annotated tissue samples for use in
subsequent etiologically-oriented translational research projects.

Eligibility:

- Individuals with PPB and their relatives.

- Individuals in the general population with one or more of the unique tumors reported in
patients and families with PPB: cystic nephroma, ovarian Sertoli-Leydig cell tumors,
ocular medulloepithelioma, and nasal chondromesenchymal hamartoma. Relatives of these
patients will be eligible for study enrollment as well.

Design:

Multidisciplinary natural history study with self-administered questionnaires,
clinical/epidemiologic/genetic evaluations, clinical and research laboratory tests, review
of medical records, cancer surveillance, and biospecimen acquisition:

Inclusion Criteria


- INCLUSION CRITERIA:

- North American patients with histologically-confirmed PPB and their relatives of
interest [parents, siblings, mutation carriers (e.g., grandparents), other
affecteds].

- North American patients from the general population with one or more of the unique
tumors of the types seen in patients/families with PPB - cystic nephroma, ovarian
Sertoli-Leydig cell tumors, ocular medulloepithelioma, and nasal chondromesenchymal
hamartoma - regardless of family history. Relatives of these patients will be
eligible for study as well (parents, siblings, mutation carriers, other affecteds).
Additional syndrome-associated neoplasms may be identified in the future, and they
will be added to the protocol as needed.

- All types and amounts of prior therapies are allowed.

- There is no age restriction.

- There is no restriction related to organ and marrow function.

- Ability of the proband or their guardians to understand, and their willingness to
sign, a written informed consent document.

EXCLUSION CRITERIA:

- Individuals and families referred for evaluation in whom reported diagnoses are not
verifiable.

- Inability to provide informed consent.

Type of Study:

Observational

Study Design:

N/A

Principal Investigator

Douglas R Stewart, M.D.

Investigator Role:

Principal Investigator

Investigator Affiliation:

National Cancer Institute (NCI)

Authority:

United States: Federal Government

Study ID:

110034

NCT ID:

NCT01247597

Start Date:

November 2010

Completion Date:

Related Keywords:

  • Pleuropulmonary Blastoma
  • Cystic Nephroma
  • Ovarian Sertoli-Leydig Cell Tumors
  • Ocular Medulloepithelioma
  • Nasal Chondromesenchymal Hamartoma
  • Pleuropulmonary Blastoma
  • Germline DICER1 Mutation
  • MicroRNA Biogenesis
  • PPB
  • Sertoli-Leydig Cell Tumor
  • Disease Susceptibility
  • Hamartoma
  • Leydig Cell Tumor
  • Neuroectodermal Tumors, Primitive
  • Pulmonary Blastoma

Name

Location
National Institutes of Health Clinical Center, 9000 Rockville Pike Bethesda, Maryland  20892